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<!--
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UID=87528
|
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ConceptID=C0345996
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Milia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87528</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.">C0345996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Milium; Milium cyst; Milium Cyst; Milk spot; Millium cyst; Subepidermal keratin cyst</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Milia (254679001); Milium (37719003); Milia (37719003); Subepidermal keratin cyst (37719003); Milium cyst (37719003)</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:0001056">HP:0001056</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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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">Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface 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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Milia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/19974" ref="tree=MeSH" title="MedGen record for Clinical finding">Clinical finding</a></span><ul><li><span class="TLline"><a href="/medgen/65128" ref="tree=MeSH" title="MedGen record for Lesion">Lesion</a></span><ul><li><span class="TLline"><a href="/medgen/41396" ref="tree=MeSH" title="MedGen record for Cyst">Cyst</a></span><ul><li><span class="TLline"><a href="/medgen/66022" ref="tree=MeSH" title="MedGen record for Cutaneous cyst">Cutaneous cyst</a></span><ul><li><span class="matched_ds">Milia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
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</div>
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<div class="portlet mgSection" id="ID_112">
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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="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_2554"><div><strong>Gorlin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2554</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.">C0004779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs), usually from the third decade onward. Many individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in 90% of affected individuals by age 30 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals, respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2554">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_38194"><div><strong>Epidermolysis bullosa simplex 1A, generalized severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38194</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.">C0079295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/38194">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_36311"><div><strong>Recessive dystrophic epidermolysis bullosa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36311</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.">C0079474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/36311">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_36328"><div><strong>Junctional epidermolysis bullosa gravis of Herlitz</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36328</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.">C0079683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/36328">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87016"><div><strong>Epidermolysis bullosa simplex 1C, localized</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87016</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.">C0080333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/87016">Condition Record</a></div></div>
|
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<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>
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<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>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/82666">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83356"><div><strong>Multiple eruptive milia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83356</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.">C0343079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Multiple eruptive milia (MEM) is a rare condition in which clusters of milia (benign keratinous cysts) develop suddenly on the face and upper trunk (summary by Langley et al., 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83356">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87539"><div><strong>Follicular atrophoderma and basal cell epitheliomata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87539</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.">C0346104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87539">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140808"><div><strong>Basan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140808</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.">C0406707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140808">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140935"><div><strong>Generalized dominant dystrophic epidermolysis bullosa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140935</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.">C0432322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140935">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208667"><div><strong>Orofaciodigital syndrome VIII</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208667</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.">C0796101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.\n\nAbnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.\n\nDistinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).\n\nAbnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.\n\nThe signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.\n\nResearchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.\n\nOral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208667">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162908"><div><strong>Orofaciodigital syndrome IX</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162908</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.">C0796102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome with characteristics of highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, forked metatarsal, poly and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Less than ten cases have been described in the literature. The causative gene has not yet been identified.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162908">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_266151"><div><strong>Epidermolysis bullosa pruriginosa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266151</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.">C1275114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266151">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_307142"><div><strong>Orofaciodigital syndrome I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>307142</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.">C1510460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following: oral features (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities); facial features (widely spaced eyes, telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft of the upper lip, micrognathia); digital features (brachydactyly, syndactyly, clinodactyly of the fifth finger, duplicated great toe); polycystic kidney disease; brain MRI findings (intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation); and intellectual disability (in approximately 50% of affected individuals).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/307142">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343607"><div><strong>Transient bullous dermolysis of the newborn</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343607</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.">C1851573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343607">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346703"><div><strong>Brooke-Spiegler syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346703</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.">C1857941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_418981"><div><strong>Epidermolysis bullosa simplex 5B, with muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418981</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.">C2931072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/418981">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794134"><div><strong>Epidermolysis bullosa simplex, Koebner type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794134</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.">C5561924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794134">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1810975"><div><strong>Junctional epidermolysis bullosa with pyloric atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810975</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.">C5676875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; renal and/or ureteral anomalies; and protein-losing enteropathy. The course of EB-PA is usually severe and most often lethal in the neonatal period. Those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, diaper area, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, and corneal abnormalities.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1810975">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1803541"><div><strong>Stüve-Wiedemann syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803541</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.">C5676888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803541">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1849794"><div><strong>Variegate porphyria, childhood-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1849794</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.">C5882681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Childhood-onset variegate porphyria (VPCO), also called 'homozygous' variegate porphyria, is a rare disorder of heme biosynthesis characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand, and, less consistently, short stature, impaired intellectual development, and seizures. The term 'homozygous' refers to the presence of mutations on both alleles of the PPOX gene, resulting in earlier onset and more severe manifestations than those seen in variegate porphyria (VP), a low-penetrance disorder inherited as an autosomal dominant trait (summary by Roberts et al., 1998). Heterozygous family members of VPCO patients are usually clinically silent, but symptomatic heterozygotes have been reported (Mustajoki et al., 1987; Palmer et al., 2001; Kauppinen et al., 2001). Nomenclature 'Homozygous' variegate porphyria was so designated before the molecular defect in PPOX was elucidated, on the basis of severe reduction in PPOX activity (between 5 and 20% of control values) compared to that seen in variegate porphyria (approximately 50% reduction), in which autosomal dominant transmission had been observed. It is probable that most cases of 'homozygous' variegate porphyria actually result from compound heterozygosity for PPOX mutations (Frank et al., 1998; Palmer et al., 2001).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1849794">Condition Record</a></div></div>
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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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basan syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brooke-Spiegler syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa pruriginosa</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_38194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex 1A, generalized severe</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87016" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex 1C, localized</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex 5B, with muscular dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794134" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex, Koebner type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Follicular atrophoderma and basal cell epitheliomata</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized dominant dystrophic epidermolysis bullosa</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gorlin syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_36328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Junctional epidermolysis bullosa gravis of Herlitz</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1810975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Junctional epidermolysis bullosa with pyloric atresia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple eruptive milia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_307142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162908" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome IX</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome VIII</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_36311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recessive dystrophic epidermolysis bullosa</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stüve-Wiedemann syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transient bullous dermolysis of the newborn</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1849794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Variegate porphyria, childhood-onset</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/37943264">Hypohidrotic Ectodermal Dysplasia Milia Treatment With Fractional Carbon Dioxide Laser and Laser-Assisted Drug Delivery of Triamcinolone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mineroff J,
|
||
Dowling JR,
|
||
Golbari NM,
|
||
Wechter T,
|
||
Jagdeo J</span><br />
|
||
<span class="medgenPMjournal">J Drugs Dermatol</span>
|
||
2023 Nov 1;22(11):1130-1132.
|
||
doi: 10.36849/JDD.7650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37943264" target="_blank">37943264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32537748">The differential diagnosis of syringoma and milia based on the imaging of reflectance confocal microscopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao M,
|
||
Lin Y,
|
||
Wang L,
|
||
Yu Y,
|
||
Zhou Y,
|
||
Chen S,
|
||
Lu X,
|
||
Shan X,
|
||
Liu H</span><br />
|
||
<span class="medgenPMjournal">Skin Res Technol</span>
|
||
2020 Nov;26(6):951-953.
|
||
Epub 2020 Jun 14
|
||
doi: 10.1111/srt.12879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32537748" target="_blank">32537748</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24972891">Cutis verticis gyrata-like skin toxicity during treatment of melanoma patients with the BRAF inhibitor vemurafenib after whole-brain radiotherapy is a consequence of the development of multiple follicular cysts and milia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lang N,
|
||
Sterzing F,
|
||
Enk AH,
|
||
Hassel JC</span><br />
|
||
<span class="medgenPMjournal">Strahlenther Onkol</span>
|
||
2014 Oct;190(11):1080-1.
|
||
Epub 2014 Jun 28
|
||
doi: 10.1007/s00066-014-0707-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24972891" target="_blank">24972891</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22milia%22%5Btiab%3A~0%5D)%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 (15)</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/35701269">Epidermolysis bullosa acquisita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto D,
|
||
Gordilho JO,
|
||
Santi CG,
|
||
Porro AM</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2022 Jul-Aug;97(4):409-423.
|
||
Epub 2022 Jun 11
|
||
doi: 10.1016/j.abd.2021.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35701269" target="_blank">35701269</a><a href="/pmc/articles/PMC9263658" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29566793">Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolas A,
|
||
Kenna KP,
|
||
Renton AE,
|
||
Ticozzi N,
|
||
Faghri F,
|
||
Chia R,
|
||
Dominov JA,
|
||
Kenna BJ,
|
||
Nalls MA,
|
||
Keagle P,
|
||
Rivera AM,
|
||
van Rheenen W,
|
||
Murphy NA,
|
||
van Vugt JJFA,
|
||
Geiger JT,
|
||
Van der Spek RA,
|
||
Pliner HA,
|
||
Shankaracharya,
|
||
Smith BN,
|
||
Marangi G,
|
||
Topp SD,
|
||
Abramzon Y,
|
||
Gkazi AS,
|
||
Eicher JD,
|
||
Kenna A;
|
||
ITALSGEN Consortium,
|
||
Mora G,
|
||
Calvo A,
|
||
Mazzini L,
|
||
Riva N,
|
||
Mandrioli J,
|
||
Caponnetto C,
|
||
Battistini S,
|
||
Volanti P,
|
||
La Bella V,
|
||
Conforti FL,
|
||
Borghero G,
|
||
Messina S,
|
||
Simone IL,
|
||
Trojsi F,
|
||
Salvi F,
|
||
Logullo FO,
|
||
D'Alfonso S,
|
||
Corrado L,
|
||
Capasso M,
|
||
Ferrucci L;
|
||
Genomic Translation for ALS Care (GTAC) Consortium,
|
||
Moreno CAM,
|
||
Kamalakaran S,
|
||
Goldstein DB;
|
||
ALS Sequencing Consortium,
|
||
Gitler AD,
|
||
Harris T,
|
||
Myers RM;
|
||
NYGC ALS Consortium,
|
||
Phatnani H,
|
||
Musunuri RL,
|
||
Evani US,
|
||
Abhyankar A,
|
||
Zody MC;
|
||
Answer ALS Foundation,
|
||
Kaye J,
|
||
Finkbeiner S,
|
||
Wyman SK,
|
||
LeNail A,
|
||
Lima L,
|
||
Fraenkel E,
|
||
Svendsen CN,
|
||
Thompson LM,
|
||
Van Eyk JE,
|
||
Berry JD,
|
||
Miller TM,
|
||
Kolb SJ,
|
||
Cudkowicz M,
|
||
Baxi E;
|
||
Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium,
|
||
Benatar M,
|
||
Taylor JP,
|
||
Rampersaud E,
|
||
Wu G,
|
||
Wuu J;
|
||
SLAGEN Consortium,
|
||
Lauria G,
|
||
Verde F,
|
||
Fogh I,
|
||
Tiloca C,
|
||
Comi GP,
|
||
Sorarù G,
|
||
Cereda C;
|
||
French ALS Consortium,
|
||
Corcia P,
|
||
Laaksovirta H,
|
||
Myllykangas L,
|
||
Jansson L,
|
||
Valori M,
|
||
Ealing J,
|
||
Hamdalla H,
|
||
Rollinson S,
|
||
Pickering-Brown S,
|
||
Orrell RW,
|
||
Sidle KC,
|
||
Malaspina A,
|
||
Hardy J,
|
||
Singleton AB,
|
||
Johnson JO,
|
||
Arepalli S,
|
||
Sapp PC,
|
||
McKenna-Yasek D,
|
||
Polak M,
|
||
Asress S,
|
||
Al-Sarraj S,
|
||
King A,
|
||
Troakes C,
|
||
Vance C,
|
||
de Belleroche J,
|
||
Baas F,
|
||
Ten Asbroek ALMA,
|
||
Muñoz-Blanco JL,
|
||
Hernandez DG,
|
||
Ding J,
|
||
Gibbs JR,
|
||
Scholz SW,
|
||
Floeter MK,
|
||
Campbell RH,
|
||
Landi F,
|
||
Bowser R,
|
||
Pulst SM,
|
||
Ravits JM,
|
||
MacGowan DJL,
|
||
Kirby J,
|
||
Pioro EP,
|
||
Pamphlett R,
|
||
Broach J,
|
||
Gerhard G,
|
||
Dunckley TL,
|
||
Brady CB,
|
||
Kowall NW,
|
||
Troncoso JC,
|
||
Le Ber I,
|
||
Mouzat K,
|
||
Lumbroso S,
|
||
Heiman-Patterson TD,
|
||
Kamel F,
|
||
Van Den Bosch L,
|
||
Baloh RH,
|
||
Strom TM,
|
||
Meitinger T,
|
||
Shatunov A,
|
||
Van Eijk KR,
|
||
de Carvalho M,
|
||
Kooyman M,
|
||
Middelkoop B,
|
||
Moisse M,
|
||
McLaughlin RL,
|
||
Van Es MA,
|
||
Weber M,
|
||
Boylan KB,
|
||
Van Blitterswijk M,
|
||
Rademakers R,
|
||
Morrison KE,
|
||
Basak AN,
|
||
Mora JS,
|
||
Drory VE,
|
||
Shaw PJ,
|
||
Turner MR,
|
||
Talbot K,
|
||
Hardiman O,
|
||
Williams KL,
|
||
Fifita JA,
|
||
Nicholson GA,
|
||
Blair IP,
|
||
Rouleau GA,
|
||
Esteban-Pérez J,
|
||
García-Redondo A,
|
||
Al-Chalabi A;
|
||
Project MinE ALS Sequencing Consortium,
|
||
Rogaeva E,
|
||
Zinman L,
|
||
Ostrow LW,
|
||
Maragakis NJ,
|
||
Rothstein JD,
|
||
Simmons Z,
|
||
Cooper-Knock J,
|
||
Brice A,
|
||
Goutman SA,
|
||
Feldman EL,
|
||
Gibson SB,
|
||
Taroni F,
|
||
Ratti A,
|
||
Gellera C,
|
||
Van Damme P,
|
||
Robberecht W,
|
||
Fratta P,
|
||
Sabatelli M,
|
||
Lunetta C,
|
||
Ludolph AC,
|
||
Andersen PM,
|
||
Weishaupt JH,
|
||
Camu W,
|
||
Trojanowski JQ,
|
||
Van Deerlin VM,
|
||
Brown RH Jr,
|
||
van den Berg LH,
|
||
Veldink JH,
|
||
Harms MB,
|
||
Glass JD,
|
||
Stone DJ,
|
||
Tienari P,
|
||
Silani V,
|
||
Chiò A,
|
||
Shaw CE,
|
||
Traynor BJ,
|
||
Landers JE</span><br />
|
||
<span class="medgenPMjournal">Neuron</span>
|
||
2018 Mar 21;97(6):1267-1288.
|
||
doi: 10.1016/j.neuron.2018.02.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29566793" target="_blank">29566793</a><a href="/pmc/articles/PMC5867896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/25647203">Transfusion of plasma, platelets, and red blood cells in a 1:1:1 vs a 1:1:2 ratio and mortality in patients with severe trauma: the PROPPR randomized clinical trial.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Holcomb JB,
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Tilley BC,
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del Junco DJ,
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Callcut RA,
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Cotton BA,
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Fabian TC,
|
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Inaba K,
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Kerby JD,
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Scalea TM,
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Schreiber MA,
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Weinberg JA,
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Callum JL,
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Hess JR,
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Matijevic N,
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Miller CN,
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Hoyt DB,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Milia%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 (366)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35701269">Epidermolysis bullosa acquisita.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto D,
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Gordilho JO,
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Santi CG,
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<span class="bold">PMID: </span><a href="/pubmed/35701269" target="_blank">35701269</a><a href="/pmc/articles/PMC9263658" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35274547">Recurrent aphthous stomatitis (RAS): guideline for differential diagnosis and management.</a></div>
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ALS Sequencing Consortium,
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Taylor JP,
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<div class="nl"><a target="_blank" href="/pubmed/22137228">Epidermolysis bullosa acquisita.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18236822">Newborn skin: Part I. Common rashes.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Milia%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 (354)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35701269">Epidermolysis bullosa acquisita.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto D,
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Gordilho JO,
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Santi CG,
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Porro AM</span><br />
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<span class="medgenPMjournal">An Bras Dermatol</span>
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2022 Jul-Aug;97(4):409-423.
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Epub 2022 Jun 11
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doi: 10.1016/j.abd.2021.09.010.
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<span class="bold">PMID: </span><a href="/pubmed/35701269" target="_blank">35701269</a><a href="/pmc/articles/PMC9263658" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25647203">Transfusion of plasma, platelets, and red blood cells in a 1:1:1 vs a 1:1:2 ratio and mortality in patients with severe trauma: the PROPPR randomized clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holcomb JB,
|
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Tilley BC,
|
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Baraniuk S,
|
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Fox EE,
|
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Wade CE,
|
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Podbielski JM,
|
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del Junco DJ,
|
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Brasel KJ,
|
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Bulger EM,
|
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Callcut RA,
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Cohen MJ,
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Cotton BA,
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Fabian TC,
|
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Inaba K,
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Kerby JD,
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Muskat P,
|
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O'Keeffe T,
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Rizoli S,
|
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Robinson BR,
|
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Scalea TM,
|
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Schreiber MA,
|
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Stein DM,
|
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Weinberg JA,
|
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Callum JL,
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Hess JR,
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Matijevic N,
|
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Miller CN,
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Pittet JF,
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Hoyt DB,
|
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Pearson GD,
|
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Leroux B,
|
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van Belle G;
|
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PROPPR Study Group</span><br />
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<span class="medgenPMjournal">JAMA</span>
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2015 Feb 3;313(5):471-82.
|
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doi: 10.1001/jama.2015.12.
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<span class="bold">PMID: </span><a href="/pubmed/25647203" target="_blank">25647203</a><a href="/pmc/articles/PMC4374744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/22137228">Epidermolysis bullosa acquisita.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Gupta R,
|
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Woodley DT,
|
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Chen M</span><br />
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<span class="medgenPMjournal">Clin Dermatol</span>
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2012 Jan-Feb;30(1):60-9.
|
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doi: 10.1016/j.clindermatol.2011.03.011.
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<span class="bold">PMID: </span><a href="/pubmed/22137228" target="_blank">22137228</a><a href="/pmc/articles/PMC3234994" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15677974">Bullous solar elastosis.</a></div>
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Montalvo L,
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<span class="bold">PMID: </span><a href="/pubmed/15677974" target="_blank">15677974</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6216854">Cosmetic dermatologic surgery.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stegman SJ,
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Tromovitch TA</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/6216854" target="_blank">6216854</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Milia%22%20AND%20Therapy%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 (270)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35701269">Epidermolysis bullosa acquisita.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto D,
|
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Gordilho JO,
|
||
Santi CG,
|
||
Porro AM</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
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2022 Jul-Aug;97(4):409-423.
|
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Epub 2022 Jun 11
|
||
doi: 10.1016/j.abd.2021.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35701269" target="_blank">35701269</a><a href="/pmc/articles/PMC9263658" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/27951544">Haemodiafiltration at Higher Volumes and Patient Survival.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25647203">Transfusion of plasma, platelets, and red blood cells in a 1:1:1 vs a 1:1:2 ratio and mortality in patients with severe trauma: the PROPPR randomized clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holcomb JB,
|
||
Tilley BC,
|
||
Baraniuk S,
|
||
Fox EE,
|
||
Wade CE,
|
||
Podbielski JM,
|
||
del Junco DJ,
|
||
Brasel KJ,
|
||
Bulger EM,
|
||
Callcut RA,
|
||
Cohen MJ,
|
||
Cotton BA,
|
||
Fabian TC,
|
||
Inaba K,
|
||
Kerby JD,
|
||
Muskat P,
|
||
O'Keeffe T,
|
||
Rizoli S,
|
||
Robinson BR,
|
||
Scalea TM,
|
||
Schreiber MA,
|
||
Stein DM,
|
||
Weinberg JA,
|
||
Callum JL,
|
||
Hess JR,
|
||
Matijevic N,
|
||
Miller CN,
|
||
Pittet JF,
|
||
Hoyt DB,
|
||
Pearson GD,
|
||
Leroux B,
|
||
van Belle G;
|
||
PROPPR Study Group</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2015 Feb 3;313(5):471-82.
|
||
doi: 10.1001/jama.2015.12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25647203" target="_blank">25647203</a><a href="/pmc/articles/PMC4374744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18236822">Newborn skin: Part I. Common rashes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Connor NR,
|
||
McLaughlin MR,
|
||
Ham P</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2008 Jan 1;77(1):47-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18236822" target="_blank">18236822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11105361">Porphyria cutanea tarda.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bleasel NR,
|
||
Varigos GA</span><br />
|
||
<span class="medgenPMjournal">Australas J Dermatol</span>
|
||
2000 Nov;41(4):197-206; quiz 207-8.
|
||
doi: 10.1046/j.1440-0960.2000.00437.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11105361" target="_blank">11105361</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Milia%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 (183)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35429058">Ungual seborrheic keratosis with longitudinal melanonychia: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kameda E,
|
||
Togawa Y,
|
||
Maru Y,
|
||
Matsue H</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2022 Aug;49(8):775-778.
|
||
Epub 2022 Apr 15
|
||
doi: 10.1111/1346-8138.16392.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35429058" target="_blank">35429058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25647203">Transfusion of plasma, platelets, and red blood cells in a 1:1:1 vs a 1:1:2 ratio and mortality in patients with severe trauma: the PROPPR randomized clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holcomb JB,
|
||
Tilley BC,
|
||
Baraniuk S,
|
||
Fox EE,
|
||
Wade CE,
|
||
Podbielski JM,
|
||
del Junco DJ,
|
||
Brasel KJ,
|
||
Bulger EM,
|
||
Callcut RA,
|
||
Cohen MJ,
|
||
Cotton BA,
|
||
Fabian TC,
|
||
Inaba K,
|
||
Kerby JD,
|
||
Muskat P,
|
||
O'Keeffe T,
|
||
Rizoli S,
|
||
Robinson BR,
|
||
Scalea TM,
|
||
Schreiber MA,
|
||
Stein DM,
|
||
Weinberg JA,
|
||
Callum JL,
|
||
Hess JR,
|
||
Matijevic N,
|
||
Miller CN,
|
||
Pittet JF,
|
||
Hoyt DB,
|
||
Pearson GD,
|
||
Leroux B,
|
||
van Belle G;
|
||
PROPPR Study Group</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2015 Feb 3;313(5):471-82.
|
||
doi: 10.1001/jama.2015.12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25647203" target="_blank">25647203</a><a href="/pmc/articles/PMC4374744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18236822">Newborn skin: Part I. Common rashes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Connor NR,
|
||
McLaughlin MR,
|
||
Ham P</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2008 Jan 1;77(1):47-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18236822" target="_blank">18236822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15073441">Dysphagia following Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paciaroni M,
|
||
Mazzotta G,
|
||
Corea F,
|
||
Caso V,
|
||
Venti M,
|
||
Milia P,
|
||
Silvestrelli G,
|
||
Palmerini F,
|
||
Parnetti L,
|
||
Gallai V</span><br />
|
||
<span class="medgenPMjournal">Eur Neurol</span>
|
||
2004;51(3):162-7.
|
||
Epub 2004 Apr 1
|
||
doi: 10.1159/000077663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15073441" target="_blank">15073441</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10998532">Studies of the cardiovascular effects of nociceptin and related peptides.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salis MB,
|
||
Emanueli C,
|
||
Milia AF,
|
||
Guerrini R,
|
||
Madeddu P</span><br />
|
||
<span class="medgenPMjournal">Peptides</span>
|
||
2000 Jul;21(7):985-93.
|
||
doi: 10.1016/s0196-9781(00)00238-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10998532" target="_blank">10998532</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Milia%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 (258)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37433584">Non-demyelinating disorders mimicking and misdiagnosed as NMOSD: a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zara P,
|
||
Dinoto A,
|
||
Carta S,
|
||
Floris V,
|
||
Turilli D,
|
||
Budhram A,
|
||
Ferrari S,
|
||
Milia S,
|
||
Solla P,
|
||
Mariotto S,
|
||
Flanagan EP,
|
||
Lopez Chiriboga AS,
|
||
Sechi E</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2023 Oct;30(10):3367-3376.
|
||
Epub 2023 Jul 19
|
||
doi: 10.1111/ene.15983.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37433584" target="_blank">37433584</a><a href="/pmc/articles/PMC10530555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35049061">Brunsting-Perry pemphigoid: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aromolo IF,
|
||
Maronese CA,
|
||
Moltrasio C,
|
||
Genovese G,
|
||
Marzano AV</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2022 Nov;61(11):1353-1358.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1111/ijd.16045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35049061" target="_blank">35049061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31183743">Prevalence of poor sleep quality in the Ethiopian population: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manzar MD,
|
||
Bekele BB,
|
||
Noohu MM,
|
||
Salahuddin M,
|
||
Albougami A,
|
||
Spence DW,
|
||
Pandi-Perumal SR,
|
||
Bahammam AS</span><br />
|
||
<span class="medgenPMjournal">Sleep Breath</span>
|
||
2020 Jun;24(2):709-716.
|
||
Epub 2019 Jun 10
|
||
doi: 10.1007/s11325-019-01871-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31183743" target="_blank">31183743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23857225">The use of probiotic strains in caries prevention: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cagetti MG,
|
||
Mastroberardino S,
|
||
Milia E,
|
||
Cocco F,
|
||
Lingström P,
|
||
Campus G</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2013 Jul 5;5(7):2530-50.
|
||
doi: 10.3390/nu5072530.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23857225" target="_blank">23857225</a><a href="/pmc/articles/PMC3738986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22827733">A systematic review on fluoridated food in caries prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cagetti MG,
|
||
Campus G,
|
||
Milia E,
|
||
Lingström P</span><br />
|
||
<span class="medgenPMjournal">Acta Odontol Scand</span>
|
||
2013 May-Jul;71(3-4):381-7.
|
||
Epub 2012 Jul 25
|
||
doi: 10.3109/00016357.2012.690447.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22827733" target="_blank">22827733</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Milia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
||
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|
||
|
||
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
||
|
||
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Milia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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|
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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=(%22milia%22%5Btiab%3A~0%5D)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Milia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
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||
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||
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