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<!--
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||
UID=1845238
|
||
ConceptID=C5848159
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the skin</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845238</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5848159</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Skin abnormalities</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000951">HP:0000951</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An abnormality of the skin. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5848159[DISCUI]&test_type=Clinical" ref="ncbi_uid=1845238">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1845238" ref="ncbi_uid=1845238">V</a></span></span><span class="TLline">Abnormality of the skin</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="matched_ds">Abnormality of the skin</span><ul><li><span class="TLline"><a href="/medgen/1615717" ref="tree=MeSH" title="MedGen record for Abnormal perifollicular morphology">Abnormal perifollicular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1625989" ref="tree=MeSH" title="MedGen record for Perifollicular erythema">Perifollicular erythema</a></span></li><li><span class="TLline"><a href="/medgen/440567" ref="tree=MeSH" title="MedGen record for Perifollicular fibrosis">Perifollicular fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/870422" ref="tree=MeSH" title="MedGen record for Perifollicular hyperkeratosis">Perifollicular hyperkeratosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/412159" ref="tree=MeSH" title="MedGen record for Abnormal blistering of the skin">Abnormal blistering of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/1786974" ref="tree=MeSH" title="MedGen record for Blistering by anatomical location">Blistering by anatomical location</a></span></li><li><span class="TLline"><a href="/medgen/1787889" ref="tree=MeSH" title="MedGen record for Blistering by histological location">Blistering by histological location</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1615320" ref="tree=MeSH" title="MedGen record for Abnormal cutaneous collagen fibril morphology">Abnormal cutaneous collagen fibril morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1627946" ref="tree=MeSH" title="MedGen record for Cauliflower deformity of dermal collagen fibrils">Cauliflower deformity of dermal collagen fibrils</a></span></li><li><span class="TLline"><a href="/medgen/1644187" ref="tree=MeSH" title="MedGen record for Decreased dermal collagen">Decreased dermal collagen</a></span></li><li><span class="TLline"><a href="/medgen/1841786" ref="tree=MeSH" title="MedGen record for Intracellular accumulation of collagen VII">Intracellular accumulation of collagen VII</a></span></li><li><span class="TLline"><a href="/medgen/1613694" ref="tree=MeSH" title="MedGen record for Luse bodies">Luse bodies</a></span></li><li><span class="TLline"><a href="/medgen/1052767" ref="tree=MeSH" title="MedGen record for Reduced epidermal collagen IV alpha 5 chain staining">Reduced epidermal collagen IV alpha 5 chain staining</a></span></li><li><span class="TLline"><a href="/medgen/1841631" ref="tree=MeSH" title="MedGen record for Reduced lamina lucida anchoring filament density">Reduced lamina lucida anchoring filament density</a></span></li><li><span class="TLline"><a href="/medgen/1841773" ref="tree=MeSH" title="MedGen record for Reduced reticular lamina anchoring fibril density">Reduced reticular lamina anchoring fibril density</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1369253" ref="tree=MeSH" title="MedGen record for Abnormal cutaneous elastic fiber morphology">Abnormal cutaneous elastic fiber morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841711" ref="tree=MeSH" title="MedGen record for Absent dermal elastic fibers">Absent dermal elastic fibers</a></span></li><li><span class="TLline"><a href="/medgen/1370425" ref="tree=MeSH" title="MedGen record for Clumping of elastic fibers in the dermis">Clumping of elastic fibers in the dermis</a></span></li><li><span class="TLline"><a href="/medgen/1369918" ref="tree=MeSH" title="MedGen record for Fragmented elastic fibers in the dermis">Fragmented elastic fibers in the dermis</a></span></li><li><span class="TLline"><a href="/medgen/1370308" ref="tree=MeSH" title="MedGen record for Increased number of elastic fibers in the dermis">Increased number of elastic fibers in the dermis</a></span></li><li><span class="TLline"><a href="/medgen/1370941" ref="tree=MeSH" title="MedGen record for Thickened elastic fibers in the dermis">Thickened elastic fibers in the dermis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841571" ref="tree=MeSH" title="MedGen record for Abnormal dermis morphology">Abnormal dermis morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1863851" ref="tree=MeSH" title="MedGen record for Dermal flame figures">Dermal flame figures</a></span></li><li><span class="TLline"><a href="/medgen/1863958" ref="tree=MeSH" title="MedGen record for Dermal foam cells">Dermal foam cells</a></span></li><li><span class="TLline"><a href="/medgen/1863716" ref="tree=MeSH" title="MedGen record for Dermal multinucleated giant cells">Dermal multinucleated giant cells</a></span></li><li><span class="TLline"><a href="/medgen/1370097" ref="tree=MeSH" title="MedGen record for Elevated dermal desmosine content">Elevated dermal desmosine content</a></span></li><li><span class="TLline"><a href="/medgen/1864266" ref="tree=MeSH" title="MedGen record for Heterotopic dermal ossification">Heterotopic dermal ossification</a></span></li><li><span class="TLline"><a href="/medgen/1841908" ref="tree=MeSH" title="MedGen record for Interstitial dermal edema">Interstitial dermal edema</a></span></li><li><span class="TLline"><a href="/medgen/482355" ref="tree=MeSH" title="MedGen record for Papillary dermal edema">Papillary dermal edema</a></span></li><li><span class="TLline"><a href="/medgen/1864313" ref="tree=MeSH" title="MedGen record for Papillary dermis eosinophilic hyaline material">Papillary dermis eosinophilic hyaline material</a></span></li><li><span class="TLline"><a href="/medgen/1841621" ref="tree=MeSH" title="MedGen record for Perivascular dermis hyaline deposition">Perivascular dermis hyaline deposition</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1624957" ref="tree=MeSH" title="MedGen record for Abnormal dermoepidermal junction morphology">Abnormal dermoepidermal junction morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1686623" ref="tree=MeSH" title="MedGen record for Abnormal dermoepidermal hemidesmosome morphology">Abnormal dermoepidermal hemidesmosome morphology</a></span></li><li><span class="TLline"><a href="/medgen/1611994" ref="tree=MeSH" title="MedGen record for Linear C3 deposits along the epidermal basement membrane zone">Linear C3 deposits along the epidermal basement membrane zone</a></span></li><li><span class="TLline"><a href="/medgen/1614816" ref="tree=MeSH" title="MedGen record for Linear IgA deposits along the epidermal basement membrane zone">Linear IgA deposits along the epidermal basement membrane zone</a></span></li><li><span class="TLline"><a href="/medgen/1623438" ref="tree=MeSH" title="MedGen record for Linear IgG deposits along the epidermal basement membrane zone">Linear IgG deposits along the epidermal basement membrane zone</a></span></li><li><span class="TLline"><a href="/medgen/1842002" ref="tree=MeSH" title="MedGen record for Positive lupus band test">Positive lupus band test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869334" ref="tree=MeSH" title="MedGen record for Abnormal elasticity of skin">Abnormal elasticity of skin</a></span><ul><li><span class="TLline"><a href="/medgen/870294" ref="tree=MeSH" title="MedGen record for Abnormally lax or hyperextensible skin">Abnormally lax or hyperextensible skin</a></span></li><li><span class="TLline"><a href="/medgen/892876" ref="tree=MeSH" title="MedGen record for Lack of skin elasticity">Lack of skin elasticity</a></span></li><li><span class="TLline"><a href="/medgen/336730" ref="tree=MeSH" title="MedGen record for Soft skin">Soft skin</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869108" ref="tree=MeSH" title="MedGen record for Abnormal epidermal morphology">Abnormal epidermal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1842057" ref="tree=MeSH" title="MedGen record for Abnormal epidermal protein expression">Abnormal epidermal protein expression</a></span></li><li><span class="TLline"><a href="/medgen/1788473" ref="tree=MeSH" title="MedGen record for Abnormal epidermis stratum granulosum morphology">Abnormal epidermis stratum granulosum morphology</a></span></li><li><span class="TLline"><a href="/medgen/1841684" ref="tree=MeSH" title="MedGen record for Abnormal keratinocyte morphology">Abnormal keratinocyte morphology</a></span></li><li><span class="TLline"><a href="/medgen/1842091" ref="tree=MeSH" title="MedGen record for Abnormal rete ridge morphology">Abnormal rete ridge morphology</a></span></li><li><span class="TLline"><a href="/medgen/1842049" ref="tree=MeSH" title="MedGen record for Absence of epidermal lamellar bodies">Absence of epidermal lamellar bodies</a></span></li><li><span class="TLline"><a href="/medgen/1687" ref="tree=MeSH" title="MedGen record for Acantholysis">Acantholysis</a></span></li><li><span class="TLline"><a href="/medgen/90706" ref="tree=MeSH" title="MedGen record for Civatte bodies">Civatte bodies</a></span></li><li><span class="TLline"><a href="/medgen/1842042" ref="tree=MeSH" title="MedGen record for Dermal papillary IgA deposition">Dermal papillary IgA deposition</a></span></li><li><span class="TLline"><a href="/medgen/65136" ref="tree=MeSH" title="MedGen record for Epidermal acanthosis">Epidermal acanthosis</a></span></li><li><span class="TLline"><a href="/medgen/1842160" ref="tree=MeSH" title="MedGen record for Epidermal necrosis">Epidermal necrosis</a></span></li><li><span class="TLline"><a href="/medgen/472970" ref="tree=MeSH" title="MedGen record for Scaling skin">Scaling skin</a></span></li><li><span class="TLline"><a href="/medgen/473263" ref="tree=MeSH" title="MedGen record for Spongiosis">Spongiosis</a></span></li><li><span class="TLline"><a href="/medgen/21365" ref="tree=MeSH" title="MedGen record for Subcutaneous emphysema">Subcutaneous emphysema</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/224697" ref="tree=MeSH" title="MedGen record for Abnormality of skin pigmentation">Abnormality of skin pigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/869107" ref="tree=MeSH" title="MedGen record for Abnormality of dermal melanosomes">Abnormality of dermal melanosomes</a></span></li><li><span class="TLline"><a href="/medgen/870386" ref="tree=MeSH" title="MedGen record for Blotching pigmentation of the skin">Blotching pigmentation of the skin</a></span></li><li><span class="TLline"><a href="/medgen/1707777" ref="tree=MeSH" title="MedGen record for Decreased Pigmentation">Decreased Pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/870419" ref="tree=MeSH" title="MedGen record for Depigmentation/hyperpigmentation of skin">Depigmentation/hyperpigmentation of skin</a></span></li><li><span class="TLline"><a href="/medgen/870383" ref="tree=MeSH" title="MedGen record for Fine, reticulate skin pigmentation">Fine, reticulate skin pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/5272" ref="tree=MeSH" title="MedGen record for Freckling">Freckling</a></span></li><li><span class="TLline"><a href="/medgen/57992" ref="tree=MeSH" title="MedGen record for Hyperpigmentation of the skin">Hyperpigmentation of the skin</a></span></li><li><span class="TLline"><a href="/medgen/102477" ref="tree=MeSH" title="MedGen record for Hypopigmentation of the skin">Hypopigmentation of the skin</a></span></li><li><span class="TLline"><a href="/medgen/1690418" ref="tree=MeSH" title="MedGen record for Increased Pigmentation">Increased Pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/163653" ref="tree=MeSH" title="MedGen record for Mottled pigmentation">Mottled pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/369801" ref="tree=MeSH" title="MedGen record for Numerous pigmented freckles">Numerous pigmented freckles</a></span></li><li><span class="TLline"><a href="/medgen/869273" ref="tree=MeSH" title="MedGen record for Perioral hyperpigmentation">Perioral hyperpigmentation</a></span></li><li><span class="TLline"><a href="/medgen/337037" ref="tree=MeSH" title="MedGen record for Periorbital hyperpigmentation">Periorbital hyperpigmentation</a></span></li><li><span class="TLline"><a href="/medgen/870381" ref="tree=MeSH" title="MedGen record for Pigmentation anomalies of sun-exposed skin">Pigmentation anomalies of sun-exposed skin</a></span></li><li><span class="TLline"><a href="/medgen/371819" ref="tree=MeSH" title="MedGen record for Profuse pigmented skin lesions">Profuse pigmented skin lesions</a></span></li><li><span class="TLline"><a href="/medgen/481205" ref="tree=MeSH" title="MedGen record for Reticulated skin pigmentation">Reticulated skin pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/867517" ref="tree=MeSH" title="MedGen record for Symmetric great toe depigmentation">Symmetric great toe depigmentation</a></span></li><li><span class="TLline"><a href="/medgen/22677" ref="tree=MeSH" title="MedGen record for Vitiligo">Vitiligo</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/648711" ref="tree=MeSH" title="MedGen record for Cutaneous wound">Cutaneous wound</a></span><ul><li><span class="TLline"><a href="/medgen/1716813" ref="tree=MeSH" title="MedGen record for Acute cutaneous wound">Acute cutaneous wound</a></span></li><li><span class="TLline"><a href="/medgen/1710264" ref="tree=MeSH" title="MedGen record for Chronic cutaneous wound">Chronic cutaneous wound</a></span></li><li><span class="TLline"><a href="/medgen/1052823" ref="tree=MeSH" title="MedGen record for Positive probe-to-bone test">Positive probe-to-bone test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/536718" ref="tree=MeSH" title="MedGen record for Decreased skin turgor">Decreased skin turgor</a></span></li><li><span class="TLline"><a href="/medgen/1841613" ref="tree=MeSH" title="MedGen record for Dermal immune complex deposition">Dermal immune complex deposition</a></span></li><li><span class="TLline"><a href="/medgen/373141" ref="tree=MeSH" title="MedGen record for Dermal translucency">Dermal translucency</a></span></li><li><span class="TLline"><a href="/medgen/56250" ref="tree=MeSH" title="MedGen record for Dry skin">Dry skin</a></span></li><li><span class="TLline"><a href="/medgen/1690071" ref="tree=MeSH" title="MedGen record for Flaky paint dermatosis">Flaky paint dermatosis</a></span></li><li><span class="TLline"><a href="/medgen/866804" ref="tree=MeSH" title="MedGen record for Generalized abnormality of skin">Generalized abnormality of skin</a></span><ul><li><span class="TLline"><a href="/medgen/871325" ref="tree=MeSH" title="MedGen record for Abnormality of subcutaneous fat tissue">Abnormality of subcutaneous fat tissue</a></span></li><li><span class="TLline"><a href="/medgen/87601" ref="tree=MeSH" title="MedGen record for Cutaneous photosensitivity">Cutaneous photosensitivity</a></span></li><li><span class="TLline"><a href="/medgen/871324" ref="tree=MeSH" title="MedGen record for Dermatological manifestations of systemic disorders">Dermatological manifestations of systemic disorders</a></span></li><li><span class="TLline"><a href="/medgen/8544" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia">Ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/5234" ref="tree=MeSH" title="MedGen record for Flushing">Flushing</a></span></li><li><span class="TLline"><a href="/medgen/66826" ref="tree=MeSH" title="MedGen record for Fragile skin">Fragile skin</a></span></li><li><span class="TLline"><a href="/medgen/870420" ref="tree=MeSH" title="MedGen record for Generalized papillary lesions">Generalized papillary lesions</a></span></li><li><span class="TLline"><a href="/medgen/377525" ref="tree=MeSH" title="MedGen record for Poor wound healing">Poor wound healing</a></span></li><li><span class="TLline"><a href="/medgen/346633" ref="tree=MeSH" title="MedGen record for Prematurely aged appearance">Prematurely aged appearance</a></span></li><li><span class="TLline"><a href="/medgen/120484" ref="tree=MeSH" title="MedGen record for Subcutaneous calcification">Subcutaneous calcification</a></span></li><li><span class="TLline"><a href="/medgen/102473" ref="tree=MeSH" title="MedGen record for Vascular skin abnormality">Vascular skin abnormality</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82664" ref="tree=MeSH" title="MedGen record for Keratosis pilaris">Keratosis pilaris</a></span></li><li><span class="TLline"><a href="/medgen/452108" ref="tree=MeSH" title="MedGen record for Lichenification">Lichenification</a></span><ul><li><span class="TLline"><a href="/medgen/870427" ref="tree=MeSH" title="MedGen record for Flexural lichenification">Flexural lichenification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/208858" ref="tree=MeSH" title="MedGen record for Localized skin lesion">Localized skin lesion</a></span><ul><li><span class="TLline"><a href="/medgen/266204" ref="tree=MeSH" title="MedGen record for Anetoderma">Anetoderma</a></span></li><li><span class="TLline"><a href="/medgen/1391698" ref="tree=MeSH" title="MedGen record for Annular cutaneous lesion">Annular cutaneous lesion</a></span></li><li><span class="TLline"><a href="/medgen/870295" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the skin">Aplasia/Hypoplasia of the skin</a></span></li><li><span class="TLline"><a href="/medgen/90955" ref="tree=MeSH" title="MedGen record for Capillary malformation">Capillary malformation</a></span></li><li><span class="TLline"><a href="/medgen/900690" ref="tree=MeSH" title="MedGen record for Circumferential skin creases on extremities">Circumferential skin creases on extremities</a></span></li><li><span class="TLline"><a href="/medgen/67447" ref="tree=MeSH" title="MedGen record for Comedo">Comedo</a></span></li><li><span class="TLline"><a href="/medgen/66022" ref="tree=MeSH" title="MedGen record for Cutaneous cyst">Cutaneous cyst</a></span></li><li><span class="TLline"><a href="/medgen/508356" ref="tree=MeSH" title="MedGen record for Cutaneous horn">Cutaneous horn</a></span></li><li><span class="TLline"><a href="/medgen/472897" ref="tree=MeSH" title="MedGen record for Cutaneous necrosis">Cutaneous necrosis</a></span></li><li><span class="TLline"><a href="/medgen/1863787" ref="tree=MeSH" title="MedGen record for Draining sinus tract in skin">Draining sinus tract in skin</a></span></li><li><span class="TLline"><a href="/medgen/636469" ref="tree=MeSH" title="MedGen record for Eschar">Eschar</a></span></li><li><span class="TLline"><a href="/medgen/1053935" ref="tree=MeSH" title="MedGen record for Exuberant granulation tissue">Exuberant granulation tissue</a></span></li><li><span class="TLline"><a href="/medgen/1132" ref="tree=MeSH" title="MedGen record for Heloma">Heloma</a></span></li><li><span class="TLline"><a href="/medgen/373164" ref="tree=MeSH" title="MedGen record for Hypopigmented skin patches">Hypopigmented skin patches</a></span></li><li><span class="TLline"><a href="/medgen/124446" ref="tree=MeSH" title="MedGen record for Kerion celsi">Kerion celsi</a></span></li><li><span class="TLline"><a href="/medgen/1627159" ref="tree=MeSH" title="MedGen record for Lichenoid skin lesion">Lichenoid skin lesion</a></span></li><li><span class="TLline"><a href="/medgen/451035" ref="tree=MeSH" title="MedGen record for Macule">Macule</a></span></li><li><span class="TLline"><a href="/medgen/87528" ref="tree=MeSH" title="MedGen record for Milia">Milia</a></span></li><li><span class="TLline"><a href="/medgen/375465" ref="tree=MeSH" title="MedGen record for Molluscoid pseudotumors">Molluscoid pseudotumors</a></span></li><li><span class="TLline"><a href="/medgen/45074" ref="tree=MeSH" title="MedGen record for Nevus">Nevus</a></span></li><li><span class="TLline"><a href="/medgen/507324" ref="tree=MeSH" title="MedGen record for Papule">Papule</a></span></li><li><span class="TLline"><a href="/medgen/1699181" ref="tree=MeSH" title="MedGen record for Perioral radial furrowing">Perioral radial furrowing</a></span></li><li><span class="TLline"><a href="/medgen/1671036" ref="tree=MeSH" title="MedGen record for Rope sign">Rope sign</a></span></li><li><span class="TLline"><a href="/medgen/1054267" ref="tree=MeSH" title="MedGen record for Serpiginous burrow">Serpiginous burrow</a></span></li><li><span class="TLline"><a href="/medgen/1387631" ref="tree=MeSH" title="MedGen record for Serpiginous cutaneous lesion">Serpiginous cutaneous lesion</a></span></li><li><span class="TLline"><a href="/medgen/1674399" ref="tree=MeSH" title="MedGen record for Skin detachment">Skin detachment</a></span></li><li><span class="TLline"><a href="/medgen/661955" ref="tree=MeSH" title="MedGen record for Skin dimple">Skin dimple</a></span></li><li><span class="TLline"><a href="/medgen/854383" ref="tree=MeSH" title="MedGen record for Skin erosion">Skin erosion</a></span></li><li><span class="TLline"><a href="/medgen/472943" ref="tree=MeSH" title="MedGen record for Skin fissure">Skin fissure</a></span></li><li><span class="TLline"><a href="/medgen/1055543" ref="tree=MeSH" title="MedGen record for Skin laceration">Skin laceration</a></span></li><li><span class="TLline"><a href="/medgen/52367" ref="tree=MeSH" title="MedGen record for Skin nodule">Skin nodule</a></span></li><li><span class="TLline"><a href="/medgen/892547" ref="tree=MeSH" title="MedGen record for Skin pit">Skin pit</a></span></li><li><span class="TLline"><a href="/medgen/69134" ref="tree=MeSH" title="MedGen record for Skin plaque">Skin plaque</a></span></li><li><span class="TLline"><a href="/medgen/11452" ref="tree=MeSH" title="MedGen record for Skin tags">Skin tags</a></span></li><li><span class="TLline"><a href="/medgen/52369" ref="tree=MeSH" title="MedGen record for Skin ulcer">Skin ulcer</a></span></li><li><span class="TLline"><a href="/medgen/818976" ref="tree=MeSH" title="MedGen record for Skin vesicle">Skin vesicle</a></span></li><li><span class="TLline"><a href="/medgen/21939" ref="tree=MeSH" title="MedGen record for Xanthomatosis">Xanthomatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/108234" ref="tree=MeSH" title="MedGen record for Maceration">Maceration</a></span></li><li><span class="TLline"><a href="/medgen/45177" ref="tree=MeSH" title="MedGen record for Ochronosis disorder">Ochronosis disorder</a></span></li><li><span class="TLline"><a href="/medgen/69133" ref="tree=MeSH" title="MedGen record for Pallor">Pallor</a></span><ul><li><span class="TLline"><a href="/medgen/871323" ref="tree=MeSH" title="MedGen record for Anemic pallor">Anemic pallor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/482145" ref="tree=MeSH" title="MedGen record for Pigment incontinence">Pigment incontinence</a></span></li><li><span class="TLline"><a href="/medgen/97905" ref="tree=MeSH" title="MedGen record for Poikiloderma">Poikiloderma</a></span><ul><li><span class="TLline"><a href="/medgen/1863977" ref="tree=MeSH" title="MedGen record for Holster sign">Holster sign</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868988" ref="tree=MeSH" title="MedGen record for Regional abnormality of skin">Regional abnormality of skin</a></span><ul><li><span class="TLline"><a href="/medgen/609464" ref="tree=MeSH" title="MedGen record for Abnormal dermatoglyphics">Abnormal dermatoglyphics</a></span></li><li><span class="TLline"><a href="/medgen/867581" ref="tree=MeSH" title="MedGen record for Abnormal periungual morphology">Abnormal periungual morphology</a></span></li><li><span class="TLline"><a href="/medgen/866600" ref="tree=MeSH" title="MedGen record for Abnormality of the plantar skin of foot">Abnormality of the plantar skin of foot</a></span></li><li><span class="TLline"><a href="/medgen/78095" ref="tree=MeSH" title="MedGen record for Cutis gyrata of scalp">Cutis gyrata of scalp</a></span></li><li><span class="TLline"><a href="/medgen/78103" ref="tree=MeSH" title="MedGen record for Knuckle pads">Knuckle pads</a></span></li><li><span class="TLline"><a href="/medgen/450990" ref="tree=MeSH" title="MedGen record for Pretibial myxedema">Pretibial myxedema</a></span></li><li><span class="TLline"><a href="/medgen/869007" ref="tree=MeSH" title="MedGen record for Prominent digit pad">Prominent digit pad</a></span></li><li><span class="TLline"><a href="/medgen/46202" ref="tree=MeSH" title="MedGen record for Pterygium">Pterygium</a></span></li><li><span class="TLline"><a href="/medgen/67448" ref="tree=MeSH" title="MedGen record for Urate tophus">Urate tophus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841994" ref="tree=MeSH" title="MedGen record for Skin infectious agent">Skin infectious agent</a></span><ul><li><span class="TLline"><a href="/medgen/1841872" ref="tree=MeSH" title="MedGen record for Dermal microfilaria">Dermal microfilaria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/478445" ref="tree=MeSH" title="MedGen record for Stiff skin">Stiff skin</a></span></li><li><span class="TLline"><a href="/medgen/66024" ref="tree=MeSH" title="MedGen record for Thickened skin">Thickened skin</a></span><ul><li><span class="TLline"><a href="/medgen/775751" ref="tree=MeSH" title="MedGen record for Epidermal thickening">Epidermal thickening</a></span></li><li><span class="TLline"><a href="/medgen/315951" ref="tree=MeSH" title="MedGen record for Morphea">Morphea</a></span></li><li><span class="TLline"><a href="/medgen/472893" ref="tree=MeSH" title="MedGen record for Sclerodactyly">Sclerodactyly</a></span></li><li><span class="TLline"><a href="/medgen/3770" ref="tree=MeSH" title="MedGen record for Scleroderma">Scleroderma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1810356" ref="tree=MeSH" title="MedGen record for Tonofilament clumping">Tonofilament clumping</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869109" ref="tree=MeSH" title="MedGen record for Abnormality of skin physiology">Abnormality of skin physiology</a></span><ul><li><span class="TLline"><a href="/medgen/548561" ref="tree=MeSH" title="MedGen record for Auspitz sign">Auspitz sign</a></span></li><li><span class="TLline"><a href="/medgen/1393866" ref="tree=MeSH" title="MedGen record for Harlequin phenomenon">Harlequin phenomenon</a></span></li><li><span class="TLline"><a href="/medgen/868114" ref="tree=MeSH" title="MedGen record for Impaired stimulus-induced skin wrinkling">Impaired stimulus-induced skin wrinkling</a></span></li><li><span class="TLline"><a href="/medgen/1054331" ref="tree=MeSH" title="MedGen record for Koebner Phenomenon">Koebner Phenomenon</a></span></li><li><span class="TLline"><a href="/medgen/1391420" ref="tree=MeSH" title="MedGen record for Positive pathergy test">Positive pathergy test</a></span></li><li><span class="TLline"><a href="/medgen/19534" ref="tree=MeSH" title="MedGen record for Pruritus">Pruritus</a></span><ul><li><span class="TLline"><a href="/medgen/472882" ref="tree=MeSH" title="MedGen record for Ocular pruritus">Ocular pruritus</a></span></li><li><span class="TLline"><a href="/medgen/927590" ref="tree=MeSH" title="MedGen record for Pruritis on abdomen">Pruritis on abdomen</a></span></li><li><span class="TLline"><a href="/medgen/927588" ref="tree=MeSH" title="MedGen record for Pruritis on breast">Pruritis on breast</a></span></li><li><span class="TLline"><a href="/medgen/927589" ref="tree=MeSH" title="MedGen record for Pruritis on hand">Pruritis on hand</a></span></li><li><span class="TLline"><a href="/medgen/46173" ref="tree=MeSH" title="MedGen record for Pruritus ani">Pruritus ani</a></span></li><li><span class="TLline"><a href="/medgen/892290" ref="tree=MeSH" title="MedGen record for Pruritus on foot">Pruritus on foot</a></span></li><li><span class="TLline"><a href="/medgen/46174" ref="tree=MeSH" title="MedGen record for Pruritus vulvae">Pruritus vulvae</a></span></li><li><span class="TLline"><a href="/medgen/52759" ref="tree=MeSH" title="MedGen record for Tinea pedis">Tinea pedis</a></span></li><li><span class="TLline"><a href="/medgen/52969" ref="tree=MeSH" title="MedGen record for Vaginal pruritus">Vaginal pruritus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864292" ref="tree=MeSH" title="MedGen record for Salty tasting skin">Salty tasting skin</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_4238"><div><strong>Dermatosis papulosa nigra</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4238</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/4238">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_7301"><div><strong>Lentigo</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7301</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7301">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_61236"><div><strong>Aicardi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61236</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0175713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61236">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75516"><div><strong>Hyperkeratosis follicularis in cutem penetrans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75516</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0263382</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75516">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82666"><div><strong>Atrophoderma vermiculatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82666</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0263429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82666">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120516"><div><strong>Freeman-Sheldon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120516</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120516">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78672"><div><strong>Bullous cutaneous amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78672</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78672">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75687"><div><strong>Tyrosinemia type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75687</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tyrosinemia type II is characterized by corneal dystrophy, painful palmoplantar hyperkeratosis, and variable intellectual disability. Individuals diagnosed and treated from early infancy may be asymptomatic or have only mild ocular and skin manifestations. Individuals with delayed diagnosis or lack of treatment present with ocular, skin, and variable cognitive manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75687">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_124446"><div><strong>Kerion celsi</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124446</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0276742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kerion is an erythematous, boggy, tender, often sterile, weeping nodule or plaque with pustules and draining sinuses. Hair in these areas appears lusterless, brittle, and is easily plucked. Kerion can be solitary or multiple but is usually unilateral. Patients with inflammatory tinea barbae may have constitutional symptoms like fever and malaise. Kerion is a coalesced sterile pustule, but occasionally they can get superinfected with cutaneous bacteria and develop regional lymphadenopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124446">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83338"><div><strong>Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83338</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. Onset of megaloblastic anemia occurs between infancy and adolescence. The anemia is corrected with thiamine treatment, but the red cells remain macrocytic and anemia can recur if treatment is withdrawn. Progressive sensorineural hearing loss often occurs early and can be detected in toddlers; hearing loss is irreversible and may not be prevented by thiamine treatment. The diabetes mellitus is non-type I in nature, with age of onset from infancy to adolescence. Thiamine treatment may reduce insulin requirement and delay onset of diabetes in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83338">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90989"><div><strong>Vitamin D-dependent rickets type II with alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90989</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90989">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_138018"><div><strong>Familial dyskeratotic comedones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138018</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0345424</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138018">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96061"><div><strong>Pseudoatrophoderma colli</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96061</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0406561</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96061">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98359"><div><strong>Keratolytic winter erythema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98359</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0406756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Keratolytic winter erythema, also known as Oudtshoorn skin disease, manifests during childhood with recurrent episodes of palmoplantar erythema and centrifugal epidermal peeling. Lateral and dorsal aspects of the hands and feet can be involved. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin may appear unremarkable. Hyperhidrosis, associated with a pungent odor, is invariably present, and itching can occur. Peeling is preceded by the formation of dry blisters due to keratolysis, whereas formation of vesicles or bullae is rare. Cold weather, moisture, febrile diseases, and physical and mental stress can trigger exacerbations. In severely affected individuals, skin manifestations persist unremittingly. Penetrance of the disease is high, but expressivity is variable, even within the same family (summary by Ngcungcu et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98359">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_226997"><div><strong>Congenital fascial dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226997</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1302740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/226997">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371334"><div><strong>Atrophia maculosa varioliformis cutis, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371334</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371334">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371746"><div><strong>Noduli Cutanei, multiple, with urinary tract abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371746</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834143</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371746">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_372036"><div><strong>Lichen planus, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372036</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1835402</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An instance of lichen planus that is caused by an inherited modification of the individual's genome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/372036">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_372055"><div><strong>Lentiginosis, centrofacial neurodysraphic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372055</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1835484</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/372055">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_320656"><div><strong>Keratosis palmaris et plantaris-clinodactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320656</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1835663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/320656">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332086"><div><strong>Systemic lupus erythematosus, susceptibility to, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332086</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1835919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332086">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322969"><div><strong>Hypotrichosis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.\n\nRarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322969">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_327045"><div><strong>Insect Stings, hypersensitivity to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327045</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1840171</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/327045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326732"><div><strong>Hyperlipoproteinemia, type II, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326732</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1840425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326732">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374834"><div><strong>Glomuvenous malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374834</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1841984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; 600195), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin (102620) and vimentin (193060) (summary by Brouillard et al., 2002). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene (600221) in mucocutaneous venous malformations and not in glomuvenous malformations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374834">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334166"><div><strong>Lipodystrophy-intellectual disability-deafness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334166">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337891"><div><strong>Prenatal bowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337891</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337891">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337964"><div><strong>Parana hard-skin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337964</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic skin disorder with characteristics of very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337964">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343736"><div><strong>Dermal Ridges, patternless</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343736</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1852160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343736">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342846"><div><strong>Hamartoma, Precalcaneal congenital fibrolipomatous</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342846</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342846">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343282"><div><strong>Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343282</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343282">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347504"><div><strong>Familial reactive perforating collagenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347504</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reactive perforating collagenosis, characterized by extrusion of collagen fibers through the epidermis, usually begins in infancy or childhood and appears clinically as recurrent umbilicated papules that resolve spontaneously in 6 to 8 weeks (summary by Trattner et al., 1991).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347504">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347062"><div><strong>Circumvallate placenta syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347062</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347062">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395312"><div><strong>Ataxia, deafness, and cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395312</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395312">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348321"><div><strong>Syringomas, multiple</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348321</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1861302</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348321">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349400"><div><strong>Hereditary painful callosities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349400</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1861964</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349400">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_351222"><div><strong>Trichilemmal cyst 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351222</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Trichilemmal cysts, also known as pilar cysts or tricholemmal cysts, are derived from the outer root sheath of the deeper parts of a hair follicle and consist of a well-keratinized epidermal wall surrounding semisolid hair keratin. They occur predominantly on the scalp, are easily enucleated, and appear as a firm, smooth, white-walled cyst without a punctum (McGavran and Binnington, 1966; Pinkus, 1969; Leppard and Sanderson, 1976).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351222">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356066"><div><strong>Xanthomatosis, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356066</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356066">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356529"><div><strong>Sebaceous gland hyperplasia, familial presenile</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356529</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sebaceous gland hyperplasia presents as one or more elevated, soft, yellow papules with central umbilication on the face, particularly the forehead. Lesions may spread to the neck and upper part of the thorax. Sebaceous gland hyperplasia occurs frequently in older individuals, particularly in men past middle age (Nomland, 1930). A premature form has its appearance during puberty or just afterwards, male predominance, and excessive sebaceous secretion. Most cases are sporadic (summary by Boonchai and Leenutaphong, 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356529">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356655"><div><strong>Flat face-microstomia-ear anomaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356655</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356655">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357895"><div><strong>Cleft palate-large ears-small head syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357895</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1867023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic syndrome with characteristics of cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357895">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358246"><div><strong>Patella aplasia/hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358246</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1868577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence or underdevelopment of the patella.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358246">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_401492"><div><strong>Papillomatosis, florid, of nipple</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401492</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1868647</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401492">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_369859"><div><strong>Plasminogen deficiency, type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369859</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1968804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006). Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing (Schuster and Seregard, 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369859">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393944"><div><strong>Hereditary hypercarotenemia and vitamin A deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393944</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In hypercarotenemia and vitamin A deficiency (HCVAD), serum beta-carotene levels are very high, but serum vitamin A levels are low to low-normal. Yellow or orange discoloration of skin may be present (summary by Lindqvist et al., 2007). See also 277350 for possible autosomal recessive inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393944">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_418825"><div><strong>Cerebral cavernous malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418825</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2919945</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increase in number over time, and individual lesions may increase or decrease in size. The number of cerebral cavernous malformations (CCMs) identified in an individual ranges from one or two to hundreds of lesions (typical number 6-20 CCMs) depending on the individual's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades of life either incidentally or associated with seizures, focal neurologic deficits, headaches, and/or cerebral hemorrhage. Cutaneous vascular lesions are found in 9% and retinal vascular lesions in almost 5% of affected individuals. Up to 50% of individuals with FCCM remain symptom free throughout their lives.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/418825">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462568"><div><strong>Osteogenesis imperfecta type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462568</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462568">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761238"><div><strong>Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761238</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3538951</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761238">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767031"><div><strong>Ectodermal dysplasia 7, hair/nail type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767031</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3554117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767031">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_859840"><div><strong>Amelogenesis imperfecta type 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>859840</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4011403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see Witkop, 1989).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/859840">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863000"><div><strong>Hypotrichosis 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863000</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863000">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_869278"><div><strong>Acromial dimples</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869278</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4023704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acromial dimples are skin depressions overlying the acromial process of the scapula. They are thought to arise from the entrapment of tissue between a bony structure and the uterine wall. The skin and bone become compressed and tethering results when the pressure is released. They are usually bilateral and are an isolated finding warranting no further investigation (summary by Liu and Nanan, 2008). Acromial dimples occur as a virtually consistent feature of 18q deletion (Insley, 1967).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869278">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1644234"><div><strong>Hypotrichosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551976</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HHS can be largely divided into 2 forms: the scalp-limited form (e.g., 146520) and the generalized form, such as HYPT1, in which all body hair is affected. HHS is characterized by progressive hair follicle miniaturization, which is a typical feature of androgenetic alopecia (see 109200). HHS can be inherited either as an autosomal dominant or autosomal recessive trait (e.g., HYPT8, 278150) (summary by Shimomura et al., 2010). Genetic Heterogeneity of Nonsyndromic Hypotrichosis See also HYPT2 (146520), caused by mutation in the CDSN gene (602593) on chromosome 6p21; HYPT3 (613981), caused by mutation in the KRT74 gene (608248) on chromosome 12q13; HYPT4 (146550), caused by mutation in the HRURF gene (619257) on chromosome 8p21; HYPT5 (612841), caused by mutation in the EPS8L3 gene (614989) on chromosome 1p13; HYPT6 (607903), caused by mutation in the DSG4 gene (607892) on chromosome 18q12; HYPT7 (604379), caused by mutation in the LIPH gene (607365) on chromosome 3q27; HYPT8 (278150), caused by mutation in the LPAR6 gene (609239) on chromosome 13q14; HYPT9 (614237), mapped to chromosome 10q11.23-q22.3; HYPT10 (614238), mapped to chromosome 7p22.3-p21.3; HYPT11 (615059), caused by mutation in the SNRPE gene (128260) on chromosome 1q32; HYPT12 (615885), caused by mutation in the RPL21 gene (603636) on chromosome 13q12; HYPT13 (615896), caused by mutation in the KRT71 gene (608245) on chromosome 12q13; HYPT14 (618275), caused by mutation in the LSS gene (600909) on chromosome 21q22; and HYPT15 (620177), caused by mutation in the C3ORF52 gene (611956) on chromosome 3q13.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1644234">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_869278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromial dimples</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_859840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amelogenesis imperfecta type 1A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395312" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia, deafness, and cardiomyopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371334" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophia maculosa varioliformis cutis, familial</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (53)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophoderma vermiculatum</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bullous cutaneous amyloidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cavernous malformation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347062" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Circumvallate placenta syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate-large ears-small head syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_226997" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital fascial dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343736" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermal Ridges, patternless</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermatosis papulosa nigra</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 7, hair/nail type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_138018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial dyskeratotic comedones</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial reactive perforating collagenosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat face-microstomia-ear anomaly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120516" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Freeman-Sheldon syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374834" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glomuvenous malformation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342846" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hamartoma, Precalcaneal congenital fibrolipomatous</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary hypercarotenemia and vitamin A deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary painful callosities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75516" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperkeratosis follicularis in cutem penetrans</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlipoproteinemia, type II, and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_327045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Insect Stings, hypersensitivity to</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratolytic winter erythema</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratosis palmaris et plantaris-clinodactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kerion celsi</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lentiginosis, centrofacial neurodysraphic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7301" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lentigo</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lichen planus, familial</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy-intellectual disability-deafness syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noduli Cutanei, multiple, with urinary tract abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401492" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Papillomatosis, florid, of nipple</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337964" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parana hard-skin syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patella aplasia/hypoplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Plasminogen deficiency, type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337891" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prenatal bowing</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96061" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudoatrophoderma colli</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sebaceous gland hyperplasia, familial presenile</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348321" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syringomas, multiple</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus, susceptibility to, 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_351222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichilemmal cyst 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin D-dependent rickets type II with alopecia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xanthomatosis, susceptibility to</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37166753">Keratosis pilaris: an update and approach to management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kodali N,
|
||
Patel VM,
|
||
Schwartz RA</span><br />
|
||
<span class="medgenPMjournal">Ital J Dermatol Venerol</span>
|
||
2023 Jun;158(3):217-223.
|
||
Epub 2023 May 11
|
||
doi: 10.23736/S2784-8671.23.07594-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37166753" target="_blank">37166753</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31333129">Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butler MG,
|
||
Miller JL,
|
||
Forster JL</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2019;15(4):207-244.
|
||
doi: 10.2174/1573396315666190716120925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31333129" target="_blank">31333129</a><a href="/pmc/articles/PMC7040524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29431387">Herpes Zoster and Postherpetic Neuralgia: Prevention and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saguil A,
|
||
Kane S,
|
||
Mercado M,
|
||
Lauters R</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Nov 15;96(10):656-663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29431387" target="_blank">29431387</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20skin)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1794)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32271766">Phenogenon: Gene to phenotype associations for rare genetic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pontikos N,
|
||
Murphy C,
|
||
Moghul I,
|
||
Arno G,
|
||
Fujinami K,
|
||
Fujinami Y,
|
||
Sumodhee D,
|
||
Downes S,
|
||
Webster A,
|
||
Yu J;
|
||
UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2020;15(4):e0230587.
|
||
Epub 2020 Apr 9
|
||
doi: 10.1371/journal.pone.0230587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32271766" target="_blank">32271766</a><a href="/pmc/articles/PMC7144978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20skin%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32271766">Phenogenon: Gene to phenotype associations for rare genetic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pontikos N,
|
||
Murphy C,
|
||
Moghul I,
|
||
Arno G,
|
||
Fujinami K,
|
||
Fujinami Y,
|
||
Sumodhee D,
|
||
Downes S,
|
||
Webster A,
|
||
Yu J;
|
||
UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2020;15(4):e0230587.
|
||
Epub 2020 Apr 9
|
||
doi: 10.1371/journal.pone.0230587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32271766" target="_blank">32271766</a><a href="/pmc/articles/PMC7144978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19438567">Giant congenital melanocytic naevus associated with Dandy-Walker malformation, lipomatosis and hemihypertrophy of the leg.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gönül M,
|
||
Soylu S,
|
||
Gül U,
|
||
Aslan E,
|
||
Unal T,
|
||
Ergül G</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2009 Jul;34(5):e106-9.
|
||
Epub 2009 May 5
|
||
doi: 10.1111/j.1365-2230.2008.03191.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19438567" target="_blank">19438567</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9546837">Livedo reticularis, developmental delay and stroke-like episode in a 7-year-old male.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wheeler PG,
|
||
Medina S,
|
||
Dusick A,
|
||
Bull MJ,
|
||
Andreoli SP,
|
||
Edwards-Brown M,
|
||
Weaver DD</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
1998 Jan;7(1):69-74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9546837" target="_blank">9546837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2269846">A case of neurofibroma of the palmar cutaneous branch of the median nerve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagey L,
|
||
McCabe SJ,
|
||
Wolff TW</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Br</span>
|
||
1990 Nov;15(4):489-90.
|
||
doi: 10.1016/0266-7681(90)90099-p.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2269846" target="_blank">2269846</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20skin%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32271766">Phenogenon: Gene to phenotype associations for rare genetic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pontikos N,
|
||
Murphy C,
|
||
Moghul I,
|
||
Arno G,
|
||
Fujinami K,
|
||
Fujinami Y,
|
||
Sumodhee D,
|
||
Downes S,
|
||
Webster A,
|
||
Yu J;
|
||
UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2020;15(4):e0230587.
|
||
Epub 2020 Apr 9
|
||
doi: 10.1371/journal.pone.0230587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32271766" target="_blank">32271766</a><a href="/pmc/articles/PMC7144978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20skin%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32271766">Phenogenon: Gene to phenotype associations for rare genetic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pontikos N,
|
||
Murphy C,
|
||
Moghul I,
|
||
Arno G,
|
||
Fujinami K,
|
||
Fujinami Y,
|
||
Sumodhee D,
|
||
Downes S,
|
||
Webster A,
|
||
Yu J;
|
||
UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2020;15(4):e0230587.
|
||
Epub 2020 Apr 9
|
||
doi: 10.1371/journal.pone.0230587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32271766" target="_blank">32271766</a><a href="/pmc/articles/PMC7144978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20skin%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5848159%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C5848159%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5848159%5bDISCUI%5d" target="_blank">See all (18)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20the%20skin" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20skin)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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</div>
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|
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Abnormality%20of%20the%20skin" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
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<div class="portlet_content">
|
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<ul>
|
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<li>
|
||
<a href="/pubmed/clinical?term=Abnormality%20of%20the%20skin" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Abnormality%20of%20the%20skin%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
|
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</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
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</div>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
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<li class="brieflinkpopper">
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