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<meta name="keywords" content="C1260926, abnormal pigmentation, abnormal skin color, abnormal skin colour, abnormal skin pigmentation, abnormality of pigmentation, abnormality of skin pigmentation, dyschromia, dyspigmentation, finding, pigmentary changes, pigmentary skin changes, pigmentation abnormalities, pigmentation anomaly, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An abnormality of the pigmentation of the skin." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=224697
ConceptID=C1260926
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of skin pigmentation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224697</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)&#10;Click for more information.">C1260926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Abnormal pigmentation; Abnormal skin pigmentation; Dyspigmentation; Pigmentary changes; Pigmentation 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:0001000">HP:0001000</a></td></tr>
</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>
<div class="portlet mgSection" id="ID_100">
<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 pigmentation of the skin. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<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>
<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=C1260926[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=224697">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&amp;from_uid=224697" ref="ncbi_uid=224697">V</a></span></span><span class="TLline">Abnormality of skin pigmentation</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="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><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="matched_ds">Abnormality of skin pigmentation</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><ul><li><span class="TLline"><a href="/medgen/370031" ref="tree=MeSH" title="MedGen record for Aberrant melanosome maturation">Aberrant melanosome maturation</a></span></li><li><span class="TLline"><a href="/medgen/375180" ref="tree=MeSH" title="MedGen record for Accumulation of melanosomes in melanocytes">Accumulation of melanosomes in melanocytes</a></span></li><li><span class="TLline"><a href="/medgen/812551" ref="tree=MeSH" title="MedGen record for Giant melanosomes in melanocytes">Giant melanosomes in melanocytes</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/348082" ref="tree=MeSH" title="MedGen record for Axillary freckling">Axillary freckling</a></span></li><li><span class="TLline"><a href="/medgen/320315" ref="tree=MeSH" title="MedGen record for Inguinal freckling">Inguinal freckling</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/98038" ref="tree=MeSH" title="MedGen record for Acromelanosis">Acromelanosis</a></span></li><li><span class="TLline"><a href="/medgen/140810" ref="tree=MeSH" title="MedGen record for Carney complex">Carney complex</a></span><ul><li><span class="TLline"><a href="/medgen/340253" ref="tree=MeSH" title="MedGen record for Carney complex type 2">Carney complex type 2</a></span></li><li><span class="TLline"><a href="/medgen/388559" ref="tree=MeSH" title="MedGen record for Carney complex, type 1">Carney complex, type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/332400" ref="tree=MeSH" title="MedGen record for Carney complex - trismus - pseudocamptodactyly syndrome">Carney complex - trismus - pseudocamptodactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98037" ref="tree=MeSH" title="MedGen record for Dermatopathia pigmentosa reticularis">Dermatopathia pigmentosa reticularis</a></span></li><li><span class="TLline"><a href="/medgen/811363" ref="tree=MeSH" title="MedGen record for Dowling-Degos disease">Dowling-Degos disease</a></span><ul><li><span class="TLline"><a href="/medgen/1645697" ref="tree=MeSH" title="MedGen record for Dowling-Degos disease 1">Dowling-Degos disease 1</a></span></li><li><span class="TLline"><a href="/medgen/815477" ref="tree=MeSH" title="MedGen record for Dowling-Degos disease 2">Dowling-Degos disease 2</a></span></li><li><span class="TLline"><a href="/medgen/816616" ref="tree=MeSH" title="MedGen record for Dowling-degos disease 3">Dowling-degos disease 3</a></span></li><li><span class="TLline"><a href="/medgen/816643" ref="tree=MeSH" title="MedGen record for Dowling-Degos disease 4">Dowling-Degos disease 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/419691" ref="tree=MeSH" title="MedGen record for Dyschromatosis universalis hereditaria">Dyschromatosis universalis hereditaria</a></span></li><li><span class="TLline"><a href="/medgen/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/502504" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita">Autosomal recessive dyskeratosis congenita</a></span></li><li><span class="TLline"><a href="/medgen/462794" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita 4">Autosomal recessive dyskeratosis congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/1645250" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 1">Dyskeratosis congenita, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/462793" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 2">Dyskeratosis congenita, autosomal dominant 2</a></span></li><li><span class="TLline"><a href="/medgen/462795" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 3">Dyskeratosis congenita, autosomal dominant 3</a></span></li><li><span class="TLline"><a href="/medgen/904824" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 6">Dyskeratosis congenita, autosomal dominant 6</a></span></li><li><span class="TLline"><a href="/medgen/341705" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 1">Dyskeratosis congenita, autosomal recessive 1</a></span></li><li><span class="TLline"><a href="/medgen/462791" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 2">Dyskeratosis congenita, autosomal recessive 2</a></span></li><li><span class="TLline"><a href="/medgen/462792" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 3">Dyskeratosis congenita, autosomal recessive 3</a></span></li><li><span class="TLline"><a href="/medgen/767570" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 5">Dyskeratosis congenita, autosomal recessive 5</a></span></li><li><span class="TLline"><a href="/medgen/905452" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 6">Dyskeratosis congenita, autosomal recessive 6</a></span></li><li><span class="TLline"><a href="/medgen/216941" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, X-linked">Dyskeratosis congenita, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/231230" ref="tree=MeSH" title="MedGen record for Revesz syndrome">Revesz syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/343564" ref="tree=MeSH" title="MedGen record for Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome">Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/486897" ref="tree=MeSH" title="MedGen record for Familial generalized lentiginosis">Familial generalized lentiginosis</a></span></li><li><span class="TLline"><a href="/medgen/976513" ref="tree=MeSH" title="MedGen record for Familial progressive hyperpigmentation">Familial progressive hyperpigmentation</a></span></li><li><span class="TLline"><a href="/medgen/41967" ref="tree=MeSH" title="MedGen record for Fanconi anemia">Fanconi anemia</a></span><ul><li><span class="TLline"><a href="/medgen/483333" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group A">Fanconi anemia complementation group A</a></span></li><li><span class="TLline"><a href="/medgen/336901" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group B">Fanconi anemia complementation group B</a></span></li><li><span class="TLline"><a href="/medgen/483324" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group C">Fanconi anemia complementation group C</a></span></li><li><span class="TLline"><a href="/medgen/325420" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D1">Fanconi anemia complementation group D1</a></span></li><li><span class="TLline"><a href="/medgen/463627" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D2">Fanconi anemia complementation group D2</a></span></li><li><span class="TLline"><a href="/medgen/463628" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group E">Fanconi anemia complementation group E</a></span></li><li><span class="TLline"><a href="/medgen/854016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group F">Fanconi anemia complementation group F</a></span></li><li><span class="TLline"><a href="/medgen/854017" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group G">Fanconi anemia complementation group G</a></span></li><li><span class="TLline"><a href="/medgen/323016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group I">Fanconi anemia complementation group I</a></span></li><li><span class="TLline"><a href="/medgen/323015" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group J">Fanconi anemia complementation group J</a></span></li><li><span class="TLline"><a href="/medgen/854018" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group L">Fanconi anemia complementation group L</a></span></li><li><span class="TLline"><a href="/medgen/372133" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group N">Fanconi anemia complementation group N</a></span></li><li><span class="TLline"><a href="/medgen/462003" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group O">Fanconi anemia complementation group O</a></span></li><li><span class="TLline"><a href="/medgen/854020" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group P">Fanconi anemia complementation group P</a></span></li><li><span class="TLline"><a href="/medgen/854019" ref="tree=MeSH" title="MedGen record for Fanconi anemia, complementation group M">Fanconi anemia, complementation group M</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/338154" ref="tree=MeSH" title="MedGen record for Gastrocutaneous syndrome">Gastrocutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/870432" ref="tree=MeSH" title="MedGen record for Generalized hyperpigmentation">Generalized hyperpigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/870397" ref="tree=MeSH" title="MedGen record for Generalized bronze hyperpigmentation">Generalized bronze hyperpigmentation</a></span></li><li><span class="TLline"><a href="/medgen/870391" ref="tree=MeSH" title="MedGen record for Generalized reticulate brown pigmentation">Generalized reticulate brown pigmentation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/400532" ref="tree=MeSH" title="MedGen record for H syndrome">H syndrome</a></span></li><li><span class="TLline"><a href="/medgen/326735" ref="tree=MeSH" title="MedGen record for Hyperkeratosis-hyperpigmentation syndrome">Hyperkeratosis-hyperpigmentation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/812207" ref="tree=MeSH" title="MedGen record for Hyperpigmentation in sun-exposed areas">Hyperpigmentation in sun-exposed areas</a></span><ul><li><span class="TLline"><a href="/medgen/348494" ref="tree=MeSH" title="MedGen record for Freckles in sun-exposed areas">Freckles in sun-exposed areas</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1724981" ref="tree=MeSH" title="MedGen record for Hypertrichotic hyperpigmented patch">Hypertrichotic hyperpigmented patch</a></span></li><li><span class="TLline"><a href="/medgen/1799324" ref="tree=MeSH" title="MedGen record for Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome">Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome</a></span></li><li><span class="TLline"><a href="/medgen/349760" ref="tree=MeSH" title="MedGen record for Irregular hyperpigmentation">Irregular hyperpigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/370724" ref="tree=MeSH" title="MedGen record for Forehead hyperpigmentation">Forehead hyperpigmentation</a></span></li><li><span class="TLline"><a href="/medgen/56358" ref="tree=MeSH" title="MedGen record for Hyperpigmentation of eyelid">Hyperpigmentation of eyelid</a></span></li><li><span class="TLline"><a href="/medgen/400951" ref="tree=MeSH" title="MedGen record for Hyperpigmented streaks">Hyperpigmented streaks</a></span></li><li><span class="TLline"><a href="/medgen/870409" ref="tree=MeSH" title="MedGen record for Irregular hyperpigmentation of back">Irregular hyperpigmentation of back</a></span></li><li><span class="TLline"><a href="/medgen/480288" ref="tree=MeSH" title="MedGen record for Linear hyperpigmentation">Linear hyperpigmentation</a></span></li><li><span class="TLline"><a href="/medgen/870426" ref="tree=MeSH" title="MedGen record for Progressive reticulate hyperpigmentation">Progressive reticulate hyperpigmentation</a></span></li><li><span class="TLline"><a href="/medgen/338832" ref="tree=MeSH" title="MedGen record for Reticular hyperpigmentation">Reticular hyperpigmentation</a></span></li><li><span class="TLline"><a href="/medgen/812509" ref="tree=MeSH" title="MedGen record for Spotty hyperpigmentation">Spotty hyperpigmentation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/370709" ref="tree=MeSH" title="MedGen record for Legius syndrome">Legius syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1654873" ref="tree=MeSH" title="MedGen record for Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome">Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome</a></span></li><li><span class="TLline"><a href="/medgen/473394" ref="tree=MeSH" title="MedGen record for Linear and whorled nevoid hypermelanosis">Linear and whorled nevoid hypermelanosis</a></span></li><li><span class="TLline"><a href="/medgen/69164" ref="tree=MeSH" title="MedGen record for McCune-Albright syndrome">McCune-Albright syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44344" ref="tree=MeSH" title="MedGen record for Melanosis">Melanosis</a></span><ul><li><span class="TLline"><a href="/medgen/54" ref="tree=MeSH" title="MedGen record for Acanthosis nigricans">Acanthosis nigricans</a></span></li><li><span class="TLline"><a href="/medgen/7301" ref="tree=MeSH" title="MedGen record for Lentigo">Lentigo</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7521" ref="tree=MeSH" title="MedGen record for Melasma">Melasma</a></span></li><li><span class="TLline"><a href="/medgen/120535" ref="tree=MeSH" title="MedGen record for Moynahan syndrome">Moynahan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91010" ref="tree=MeSH" title="MedGen record for Naegeli-Franceschetti-Jadassohn syndrome">Naegeli-Franceschetti-Jadassohn syndrome</a></span></li><li><span class="TLline"><a href="/medgen/863424" ref="tree=MeSH" title="MedGen record for Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome">Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/348553" ref="tree=MeSH" title="MedGen record for Neuroectodermal melanolysosomal disease">Neuroectodermal melanolysosomal disease</a></span></li><li><span class="TLline"><a href="/medgen/1813065" ref="tree=MeSH" title="MedGen record for Neurofibromatosis type 6">Neurofibromatosis type 6</a></span></li><li><span class="TLline"><a href="/medgen/18013" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 1">Neurofibromatosis, type 1</a></span><ul><li><span class="TLline"><a href="/medgen/1726802" ref="tree=MeSH" title="MedGen record for Chromosome 17q11.2 deletion syndrome, 1.4Mb">Chromosome 17q11.2 deletion syndrome, 1.4Mb</a></span></li><li><span class="TLline"><a href="/medgen/1842855" ref="tree=MeSH" title="MedGen record for Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion">Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</a></span></li><li><span class="TLline"><a href="/medgen/1643872" ref="tree=MeSH" title="MedGen record for Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas">Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas</a></span></li><li><span class="TLline"><a href="/medgen/1668269" ref="tree=MeSH" title="MedGen record for Recurrent Neurofibromatosis Type 1">Recurrent Neurofibromatosis Type 1</a></span></li><li><span class="TLline"><a href="/medgen/1656136" ref="tree=MeSH" title="MedGen record for Refractory Neurofibromatosis Type 1">Refractory Neurofibromatosis Type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/419089" ref="tree=MeSH" title="MedGen record for Neurofibromatosis-Noonan syndrome">Neurofibromatosis-Noonan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/104494" ref="tree=MeSH" title="MedGen record for Noonan syndrome with multiple lentigines">Noonan syndrome with multiple lentigines</a></span><ul><li><span class="TLline"><a href="/medgen/1631694" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 1">LEOPARD syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/370588" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 2">LEOPARD syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/462321" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 3">LEOPARD syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/419711" ref="tree=MeSH" title="MedGen record for Osteopathia striata-pigmentary dermopathy-white forelock syndrome">Osteopathia striata-pigmentary dermopathy-white forelock syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18404" ref="tree=MeSH" title="MedGen record for Peutz-Jeghers syndrome">Peutz-Jeghers syndrome</a></span></li><li><span class="TLline"><a href="/medgen/220888" ref="tree=MeSH" title="MedGen record for Port-wine stain with oculocutaneous melanosis">Port-wine stain with oculocutaneous melanosis</a></span><ul><li><span class="TLline"><a href="/medgen/824729" ref="tree=MeSH" title="MedGen record for Phakomatosis cesioflammea">Phakomatosis cesioflammea</a></span></li><li><span class="TLline"><a href="/medgen/825141" ref="tree=MeSH" title="MedGen record for Phakomatosis cesiomarmorata">Phakomatosis cesiomarmorata</a></span></li><li><span class="TLline"><a href="/medgen/825608" ref="tree=MeSH" title="MedGen record for Phakomatosis spilorosea">Phakomatosis spilorosea</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/939948" ref="tree=MeSH" title="MedGen record for Pretibial hyperpigmentation">Pretibial hyperpigmentation</a></span></li><li><span class="TLline"><a href="/medgen/870414" ref="tree=MeSH" title="MedGen record for Progressive hyperpigmentation">Progressive hyperpigmentation</a></span></li><li><span class="TLline"><a href="/medgen/98363" ref="tree=MeSH" title="MedGen record for Reticulate acropigmentation of Kitamura">Reticulate acropigmentation of Kitamura</a></span></li><li><span class="TLline"><a href="/medgen/234775" ref="tree=MeSH" title="MedGen record for Schwannomatosis">Schwannomatosis</a></span></li><li><span class="TLline"><a href="/medgen/934712" ref="tree=MeSH" title="MedGen record for Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome">Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96071" ref="tree=MeSH" title="MedGen record for Symmetrical dyschromatosis of extremities">Symmetrical dyschromatosis of extremities</a></span></li><li><span class="TLline"><a href="/medgen/335344" ref="tree=MeSH" title="MedGen record for Terminal osseous dysplasia-pigmentary defects syndrome">Terminal osseous dysplasia-pigmentary defects syndrome</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/393051" ref="tree=MeSH" title="MedGen record for Absent skin pigmentation">Absent skin pigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/868107" ref="tree=MeSH" title="MedGen record for Absent pigmentation of chest">Absent pigmentation of chest</a></span></li><li><span class="TLline"><a href="/medgen/868557" ref="tree=MeSH" title="MedGen record for Absent pigmentation of the abdomen">Absent pigmentation of the abdomen</a></span></li><li><span class="TLline"><a href="/medgen/868556" ref="tree=MeSH" title="MedGen record for Absent pigmentation of the limbs">Absent pigmentation of the limbs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/182" ref="tree=MeSH" title="MedGen record for Albinism">Albinism</a></span><ul><li><span class="TLline"><a href="/medgen/3347" ref="tree=MeSH" title="MedGen record for Chédiak-Higashi syndrome">Chédiak-Higashi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/38147" ref="tree=MeSH" title="MedGen record for Ocular albinism">Ocular albinism</a></span></li><li><span class="TLline"><a href="/medgen/90991" ref="tree=MeSH" title="MedGen record for Ocular albinism, type I">Ocular albinism, type I</a></span></li><li><span class="TLline"><a href="/medgen/36250" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism">Oculocutaneous albinism</a></span></li><li><span class="TLline"><a href="/medgen/36361" ref="tree=MeSH" title="MedGen record for Piebaldism">Piebaldism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/375573" ref="tree=MeSH" title="MedGen record for Albinism-hearing loss syndrome">Albinism-hearing loss syndrome</a></span></li><li><span class="TLline"><a href="/medgen/870402" ref="tree=MeSH" title="MedGen record for Confetti hypopigmentation pattern of lower leg skin">Confetti hypopigmentation pattern of lower leg skin</a></span></li><li><span class="TLline"><a href="/medgen/355712" ref="tree=MeSH" title="MedGen record for Deaf blind hypopigmentation syndrome, Yemenite type">Deaf blind hypopigmentation syndrome, Yemenite type</a></span></li><li><span class="TLline"><a href="/medgen/340426" ref="tree=MeSH" title="MedGen record for Generalized hypopigmentation">Generalized hypopigmentation</a></span></li><li><span class="TLline"><a href="/medgen/356483" ref="tree=MeSH" title="MedGen record for Hypopigmented streaks">Hypopigmented streaks</a></span><ul><li><span class="TLline"><a href="/medgen/870395" ref="tree=MeSH" title="MedGen record for Mediosternal, longitudinal streak of hypopigmentation">Mediosternal, longitudinal streak of hypopigmentation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1806249" ref="tree=MeSH" title="MedGen record for Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies">Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies</a></span></li><li><span class="TLline"><a href="/medgen/870152" ref="tree=MeSH" title="MedGen record for Mixed hypo- and hyperpigmentation of the skin">Mixed hypo- and hyperpigmentation of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/870440" ref="tree=MeSH" title="MedGen record for Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines">Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines</a></span></li><li><span class="TLline"><a href="/medgen/870421" ref="tree=MeSH" title="MedGen record for Axillary and groin hyperpigmentation and hypopigmentation">Axillary and groin hyperpigmentation and hypopigmentation</a></span></li><li><span class="TLline"><a href="/medgen/870429" ref="tree=MeSH" title="MedGen record for Increased groin pigmentation with raindrop depigmentation">Increased groin pigmentation with raindrop depigmentation</a></span></li><li><span class="TLline"><a href="/medgen/867215" ref="tree=MeSH" title="MedGen record for Patchy hypo- and hyperpigmentation">Patchy hypo- and hyperpigmentation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1847660" ref="tree=MeSH" title="MedGen record for Partial albinism">Partial albinism</a></span></li><li><span class="TLline"><a href="/medgen/373160" ref="tree=MeSH" title="MedGen record for PCWH syndrome">PCWH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/358177" ref="tree=MeSH" title="MedGen record for Piebald trait-neurologic defects syndrome">Piebald trait-neurologic defects syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98213" ref="tree=MeSH" title="MedGen record for Tietz syndrome">Tietz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340962" ref="tree=MeSH" title="MedGen record for Vici syndrome">Vici syndrome</a></span></li><li><span class="TLline"><a href="/medgen/22677" ref="tree=MeSH" title="MedGen record for Vitiligo">Vitiligo</a></span><ul><li><span class="TLline"><a href="/medgen/812758" ref="tree=MeSH" title="MedGen record for Progressive vitiligo">Progressive vitiligo</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473809" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome">Waardenburg syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/376211" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 1">Waardenburg syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/398443" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2">Waardenburg syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/86948" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 3">Waardenburg syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/341244" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 4A">Waardenburg syndrome type 4A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/979427" ref="tree=MeSH" title="MedGen record for Waardenburg-Shah syndrome">Waardenburg-Shah syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/412961" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 4B">Waardenburg syndrome type 4B</a></span></li><li><span class="TLline"><a href="/medgen/413310" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 4C">Waardenburg syndrome type 4C</a></span></li></ul></li></ul></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><ul><li><span class="TLline"><a href="/medgen/463314" ref="tree=MeSH" title="MedGen record for Mottled pigmentation of photoexposed areas">Mottled pigmentation of photoexposed areas</a></span></li><li><span class="TLline"><a href="/medgen/342031" ref="tree=MeSH" title="MedGen record for Mottled pigmentation of the trunk and proximal extremities">Mottled pigmentation of the trunk and proximal extremities</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1054759" ref="tree=MeSH" title="MedGen record for Flexural reticulate hyperpigmentation">Flexural reticulate hyperpigmentation</a></span></li></ul></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></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_1324"><div><strong>Primary adrenocortical insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1324</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)&#10;Click for more information.">C0001403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1324">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_7049"><div><strong>Incontinentia pigmenti syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7049</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)&#10;Click for more information.">C0021171</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system; it occurs primarily in females and on occasion in males. Characteristic skin lesions evolve through four stages: I.. Blistering (birth to age ~4 months). II.. Wart-like rash (for several months). III.. Swirling macular hyperpigmentation (age ~6 months into adulthood). IV.. Linear hypopigmentation. Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Neovascularization of the retina, present in some individuals, predisposes to retinal detachment. Neurologic findings including seizures, intellectual disability, and developmental delays are occasionally seen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7049">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_67435"><div><strong>Rotor syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67435</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)&#10;Click for more information.">C0220991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rotor syndrome is characterized by mild conjugated and unconjugated hyperbilirubinemia that usually begins shortly after birth or in childhood. Jaundice may be intermittent. Conjunctival icterus may be the only clinical manifestation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/67435">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75703"><div><strong>Homocarnosinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75703</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)&#10;Click for more information.">C0268632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Homocarnosinosis, an elevation of homocarnosine, is a biochemical aberration of unknown significance. Only one such family has been reported (Sjaastad et al., 2018).&#13; Homocarnosinosis was previously thought to be a disorder characterized by marked elevation of homocarnosine in the cerebrospinal fluid along with spastic paraplegia, impaired intellectual development, and retinal pigmentation based on the report of one Norwegian family reported by Sjaastad et al. (1976). Sjaastad et al. (2018) performed genetic analysis postmortem in this family and identified a homozygous mutation in the SPG11 gene (610844). A reevaluation of the clinical symptoms and findings in the family correlated with spastic paraplegia-11 (SPG11; 604360). A study of other patients with SPG11 did not find elevated levels of homocarnosine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75703">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_83402"><div><strong>Tufted angioma of skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83402</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)&#10;Click for more information.">C0346073</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Tufted angioma is a rare benign vascular lesion that predominantly affects children under 5 years of age but may occur in adulthood. Some cases of tufted angioma have been reported in the mother during pregnancy, whereas in other cases the tufted angioma may be congenital. The lesions occur predominantly on the neck, shoulders, and trunk and appear histologically in a 'cannonball' distribution of rounded nodules or tufts of capillary-sized vessels in the dermis, with lymphatic vessels present at the periphery. The natural history is slow progressive growth, after which it tends to remain stable in size. Regression has been reported in some cases. Tufted angioma should be distinguished from kaposiform hemangioendothelioma (KHE). Multiple tufted angioma and KHE may be associated with Kasabach-Merritt syndrome (141000), which is characterized by severe thrombocytopenia and consumption of coagulation factors (summary by Tille et al., 2003).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/83402">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_91162"><div><strong>Carbohydrate-deficient glycoprotein syndrome type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91162</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)&#10;Click for more information.">C0349655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are divided into 2 main groups: type I CDGs (see, e.g., 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., 212066) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. Conventionally, untyped and unclassified cases are labeled 'CDG-x' (Orlean, 2000; Marquardt and Denecke, 2003).&#13; The phenotypes described in this entry most likely do not represent a single disorder, but have been referred by the authors as CDG-x and are included here pending further molecular characterization. In a review of CDGs, Marquardt and Denecke (2003) stated that more than 20% of CDG patients identified still cannot be ascribed to a known enzyme defect and are thus named CDG-x.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/91162">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_155487"><div><strong>Cockayne syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155487</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)&#10;Click for more information.">C0751038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155487">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_155488"><div><strong>Cockayne syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155488</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)&#10;Click for more information.">C0751039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155488">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_335344"><div><strong>Terminal osseous dysplasia-pigmentary defects syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335344</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)&#10;Click for more information.">C1846129</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335344">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_384046"><div><strong>Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384046</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)&#10;Click for more information.">C1857052</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/384046">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_395517"><div><strong>Deafness, cataract, retinitis pigmentosa, and sperm abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395517</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)&#10;Click for more information.">C2678011</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/395517">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_416373"><div><strong>Congenital stationary night blindness 1C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416373</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)&#10;Click for more information.">C2750747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.\n\nAutosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/416373">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462792"><div><strong>Dyskeratosis congenita, autosomal recessive 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462792</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)&#10;Click for more information.">C3151442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462792">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463627"><div><strong>Fanconi anemia complementation group D2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463627</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)&#10;Click for more information.">C3160738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463627">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_477139"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477139</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)&#10;Click for more information.">C3275508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.&#13; For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080).&#13; For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350.&#13; For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477139">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_480111"><div><strong>Microcephaly and chorioretinopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480111</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)&#10;Click for more information.">C3278481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Microcephaly and chorioretinopathy is an autosomal recessive developmental disorder characterized by delayed psychomotor development and visual impairment, often accompanied by short stature (summary by Martin et al., 2014).&#13; Genetic Heterogeneity of Microcephaly and Chorioretinopathy&#13; See also MCCRP2 (616171), caused by mutation in the PLK4 gene (605031) on chromosome 4q27, and MCCRP3 (616335), caused by mutation in the TUBGCP4 gene (609610) on chromosome 15q15.&#13; An autosomal dominant form of microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development is caused by heterozygous mutation in the KIF11 gene (148760) on chromosome 10q23.&#13; See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive pigmentary retinopathy and mental retardation; 268050).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/480111">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_483333"><div><strong>Fanconi anemia complementation group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483333</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)&#10;Click for more information.">C3469521</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/483333">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_905452"><div><strong>Dyskeratosis congenita, autosomal recessive 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905452</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)&#10;Click for more information.">C4225356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/905452">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1392124"><div><strong>SRD5A3-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1392124</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)&#10;Click for more information.">C4317224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG, formerly known as congenital disorder of glycosylation type Iq) is an inherited condition that causes neurological and vision problems and other signs and symptoms. The pattern and severity of this condition's features vary widely among affected individuals.\n\nIndividuals with SRD5A3-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Most individuals with SRD5A3-CDG have intellectual disability, vision problems, unusual facial features,low muscle tone (hypotonia), and problems with coordination and balance (ataxia). \n\nVision problems in SRD5A3-CDG often include involuntary side-side movements of the eyes (nystagmus), a gap or hole in one of the structures of the eye (coloboma), underdevelopment of the nerves that carry signals between the eyes and the brain(optic nerve hypoplasia), or vision loss early in life (early-onset severe retinal dystrophy). Over time, affected individuals may develop clouding of the lenses of the eyes (cataracts) or increased pressure in the eyes (glaucoma).\n\nOther features of SRD5A3-CDG can include skin rash, unusually small red blood cells (microcytic anemia),and liver problems.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1392124">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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)&#10;Click for more information.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794177"><div><strong>DEGCAGS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794177</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)&#10;Click for more information.">C5561967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794177">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1823990"><div><strong>Dyskeratosis congenita, digenic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823990</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)&#10;Click for more information.">C5774217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Digenic dyskeratosis congenita (DKCD) is characterized clinically by a combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia. Some patients may have evidence of bone marrow failure, manifest as immune defects such as recurrent infections or hypogammaglobulinemia. Telomeres are shortened in patient cells. Individuals with DKCD may show severe adverse reactions to treatment with 5-FU (Tummala et al., 2022).&#13; For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1823990">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carbohydrate-deficient glycoprotein syndrome type III</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cockayne syndrome type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cockayne syndrome type 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness 1C</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness, cataract, retinitis pigmentosa, and sperm abnormalities</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DEGCAGS syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, digenic</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group D2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Homocarnosinosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_384046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Incontinentia pigmenti syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_480111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly and chorioretinopathy 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary adrenocortical insufficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rotor syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1392124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SRD5A3-congenital disorder of glycosylation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Terminal osseous dysplasia-pigmentary defects syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83402" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tufted angioma of skin</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/37375394">Skin Pigmentation Types, Causes and Treatment-A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thawabteh AM,
Jibreen A,
Karaman D,
Thawabteh A,
Karaman R</span><br />
<span class="medgenPMjournal">Molecules</span>
2023 Jun 18;28(12)
doi: 10.3390/molecules28124839.
<span class="bold">PMID: </span><a href="/pubmed/37375394" target="_blank">37375394</a><a href="/pmc/articles/PMC10304091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34468934">The Pathogenesis and Management of Acne-Induced Post-inflammatory Hyperpigmentation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Elbuluk N,
Grimes P,
Chien A,
Hamzavi I,
Alexis A,
Taylor S,
Gonzalez N,
Weiss J,
Desai SR,
Kang S</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2021 Nov;22(6):829-836.
Epub 2021 Sep 1
doi: 10.1007/s40257-021-00633-4.
<span class="bold">PMID: </span><a href="/pubmed/34468934" target="_blank">34468934</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32845587">Post-Inflammatory Hyperpigmentation: A Review of Treatment Strategies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shenoy A,
Madan R</span><br />
<span class="medgenPMjournal">J Drugs Dermatol</span>
2020 Aug 1;19(8):763-768.
doi: 10.36849/JDD.2020.4887.
<span class="bold">PMID: </span><a href="/pubmed/32845587" target="_blank">32845587</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20skin%20pigmentation)%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 (66)</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/38066848">Clinical manifestations of telomere biology disorders in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Niewisch MR,
Beier F,
Savage SA</span><br />
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
2023 Dec 8;2023(1):563-572.
doi: 10.1182/hematology.2023000490.
<span class="bold">PMID: </span><a href="/pubmed/38066848" target="_blank">38066848</a><a href="/pmc/articles/PMC10726987" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36485133">Dyskeratosis congenita and telomere biology disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savage SA</span><br />
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
2022 Dec 9;2022(1):637-648.
doi: 10.1182/hematology.2022000394.
<span class="bold">PMID: </span><a href="/pubmed/36485133" target="_blank">36485133</a><a href="/pmc/articles/PMC9821046" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34523883">Hereditary Hemochromatosis: Rapid Evidence Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kane SF,
Roberts C,
Paulus R</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2021 Sep 1;104(3):263-270.
<span class="bold">PMID: </span><a href="/pubmed/34523883" target="_blank">34523883</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34468934">The Pathogenesis and Management of Acne-Induced Post-inflammatory Hyperpigmentation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Elbuluk N,
Grimes P,
Chien A,
Hamzavi I,
Alexis A,
Taylor S,
Gonzalez N,
Weiss J,
Desai SR,
Kang S</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2021 Nov;22(6):829-836.
Epub 2021 Sep 1
doi: 10.1007/s40257-021-00633-4.
<span class="bold">PMID: </span><a href="/pubmed/34468934" target="_blank">34468934</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22044607">Xeroderma pigmentosum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lehmann AR,
McGibbon D,
Stefanini M</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2011 Nov 1;6:70.
doi: 10.1186/1750-1172-6-70.
<span class="bold">PMID: </span><a href="/pubmed/22044607" target="_blank">22044607</a><a href="/pmc/articles/PMC3221642" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20skin%20pigmentation%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 (377)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38066848">Clinical manifestations of telomere biology disorders in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Niewisch MR,
Beier F,
Savage SA</span><br />
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
2023 Dec 8;2023(1):563-572.
doi: 10.1182/hematology.2023000490.
<span class="bold">PMID: </span><a href="/pubmed/38066848" target="_blank">38066848</a><a href="/pmc/articles/PMC10726987" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35649565">Spotty skin pigmentation in Carney complex.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sano A,
Ono Y,
Fujita N,
Tanaka Y</span><br />
<span class="medgenPMjournal">Cleve Clin J Med</span>
2022 Jun 1;89(6):307-308.
doi: 10.3949/ccjm.89a.21069.
<span class="bold">PMID: </span><a href="/pubmed/35649565" target="_blank">35649565</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20127975">Review and update of mutations causing Waardenburg syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pingault V,
Ente D,
Dastot-Le Moal F,
Goossens M,
Marlin S,
Bondurand N</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2010 Apr;31(4):391-406.
doi: 10.1002/humu.21211.
<span class="bold">PMID: </span><a href="/pubmed/20127975" target="_blank">20127975</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4250249">The gut and the skin.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fry L</span><br />
<span class="medgenPMjournal">Postgrad Med J</span>
1970 Nov;46(541):664-70.
doi: 10.1136/pgmj.46.541.664.
<span class="bold">PMID: </span><a href="/pubmed/4250249" target="_blank">4250249</a><a href="/pmc/articles/PMC2467105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4970013">Neurocutaneous syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Perlstein MA,
Perlstein MO</span><br />
<span class="medgenPMjournal">Pediatr Clin North Am</span>
1967 Nov;14(4):933-48.
doi: 10.1016/s0031-3955(16)32065-x.
<span class="bold">PMID: </span><a href="/pubmed/4970013" target="_blank">4970013</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20skin%20pigmentation%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 (627)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34468934">The Pathogenesis and Management of Acne-Induced Post-inflammatory Hyperpigmentation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Elbuluk N,
Grimes P,
Chien A,
Hamzavi I,
Alexis A,
Taylor S,
Gonzalez N,
Weiss J,
Desai SR,
Kang S</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2021 Nov;22(6):829-836.
Epub 2021 Sep 1
doi: 10.1007/s40257-021-00633-4.
<span class="bold">PMID: </span><a href="/pubmed/34468934" target="_blank">34468934</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32845587">Post-Inflammatory Hyperpigmentation: A Review of Treatment Strategies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shenoy A,
Madan R</span><br />
<span class="medgenPMjournal">J Drugs Dermatol</span>
2020 Aug 1;19(8):763-768.
doi: 10.36849/JDD.2020.4887.
<span class="bold">PMID: </span><a href="/pubmed/32845587" target="_blank">32845587</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27240341">Heterogeneous Pathology of Melasma and Its Clinical Implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kwon SH,
Hwang YJ,
Lee SK,
Park KC</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2016 May 26;17(6)
doi: 10.3390/ijms17060824.
<span class="bold">PMID: </span><a href="/pubmed/27240341" target="_blank">27240341</a><a href="/pmc/articles/PMC4926358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9125768">Reticulate hyperpigmentation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schnur RE,
Heymann WR</span><br />
<span class="medgenPMjournal">Semin Cutan Med Surg</span>
1997 Mar;16(1):72-80.
doi: 10.1016/s1085-5629(97)80038-7.
<span class="bold">PMID: </span><a href="/pubmed/9125768" target="_blank">9125768</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1712709">Azelaic acid. A review of its pharmacological properties and therapeutic efficacy in acne and hyperpigmentary skin disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fitton A,
Goa KL</span><br />
<span class="medgenPMjournal">Drugs</span>
1991 May;41(5):780-98.
doi: 10.2165/00003495-199141050-00007.
<span class="bold">PMID: </span><a href="/pubmed/1712709" target="_blank">1712709</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20skin%20pigmentation%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 (296)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/28903145">Orangeness-Peeling Back the Myths Behind Carotenemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hsiao C,
Clukay CJ</span><br />
<span class="medgenPMjournal">JAMA Dermatol</span>
2017 Sep 1;153(9):873.
doi: 10.1001/jamadermatol.2017.2673.
<span class="bold">PMID: </span><a href="/pubmed/28903145" target="_blank">28903145</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26975629">Xeroderma Pigmentosum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Black JO</span><br />
<span class="medgenPMjournal">Head Neck Pathol</span>
2016 Jun;10(2):139-44.
Epub 2016 Mar 14
doi: 10.1007/s12105-016-0707-8.
<span class="bold">PMID: </span><a href="/pubmed/26975629" target="_blank">26975629</a><a href="/pmc/articles/PMC4838978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23652670">Carney complex.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Espiard S,
Bertherat J</span><br />
<span class="medgenPMjournal">Front Horm Res</span>
2013;41:50-62.
Epub 2013 Mar 19
doi: 10.1159/000345669.
<span class="bold">PMID: </span><a href="/pubmed/23652670" target="_blank">23652670</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22044607">Xeroderma pigmentosum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lehmann AR,
McGibbon D,
Stefanini M</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2011 Nov 1;6:70.
doi: 10.1186/1750-1172-6-70.
<span class="bold">PMID: </span><a href="/pubmed/22044607" target="_blank">22044607</a><a href="/pmc/articles/PMC3221642" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3802947">Pulmonary ceroidosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sastre J,
Renedo G,
González Mangado N,
Cabrera P,
Lahoz F</span><br />
<span class="medgenPMjournal">Chest</span>
1987 Feb;91(2):281-3.
doi: 10.1378/chest.91.2.281.
<span class="bold">PMID: </span><a href="/pubmed/3802947" target="_blank">3802947</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20skin%20pigmentation%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 (221)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36689346">Case 314.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garg P,
Bajaj S,
Sharma AK,
Narang P,
Bansal K</span><br />
<span class="medgenPMjournal">Radiology</span>
2023 Feb;306(2):e220111.
doi: 10.1148/radiol.220111.
<span class="bold">PMID: </span><a href="/pubmed/36689346" target="_blank">36689346</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27240341">Heterogeneous Pathology of Melasma and Its Clinical Implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kwon SH,
Hwang YJ,
Lee SK,
Park KC</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2016 May 26;17(6)
doi: 10.3390/ijms17060824.
<span class="bold">PMID: </span><a href="/pubmed/27240341" target="_blank">27240341</a><a href="/pmc/articles/PMC4926358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26123086">Phacomatosis Melanorosea: A Further Case of an Unusual Skin Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tekin B,
Yucelten D,
Happle R</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2016 Feb;96(2):280-2.
doi: 10.2340/00015555-2192.
<span class="bold">PMID: </span><a href="/pubmed/26123086" target="_blank">26123086</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25780981">Elejalde syndrome (ES).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammadzadeh Shanehsaz S,
Rezazadeh A,
Dandashli A</span><br />
<span class="medgenPMjournal">Dermatol Online J</span>
2015 Feb 22;21(3)
<span class="bold">PMID: </span><a href="/pubmed/25780981" target="_blank">25780981</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23652670">Carney complex.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Espiard S,
Bertherat J</span><br />
<span class="medgenPMjournal">Front Horm Res</span>
2013;41:50-62.
Epub 2013 Mar 19
doi: 10.1159/000345669.
<span class="bold">PMID: </span><a href="/pubmed/23652670" target="_blank">23652670</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20skin%20pigmentation%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 (309)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/39006359">The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sun J,
Ding L,
He L,
Fu H,
Li R,
Feng J,
Dong J,
Liao L</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2024;15:1356870.
Epub 2024 Jun 26
doi: 10.3389/fendo.2024.1356870.
<span class="bold">PMID: </span><a href="/pubmed/39006359" target="_blank">39006359</a><a href="/pmc/articles/PMC11240189" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36126406">The melanin inhibitory effect of plants and phytochemicals: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Feng D,
Fang Z,
Zhang P</span><br />
<span class="medgenPMjournal">Phytomedicine</span>
2022 Dec;107:154449.
Epub 2022 Sep 6
doi: 10.1016/j.phymed.2022.154449.
<span class="bold">PMID: </span><a href="/pubmed/36126406" target="_blank">36126406</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33481271">Nevus comedonicus syndrome: A systematic review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torchia D</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2021 Mar;38(2):359-363.
Epub 2021 Jan 22
doi: 10.1111/pde.14508.
<span class="bold">PMID: </span><a href="/pubmed/33481271" target="_blank">33481271</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31286966">Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kong X,
Xie L,
Zhu H,
Song L,
Xing X,
Yang W,
Chen X</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2019 Jul 8;14(1):171.
doi: 10.1186/s13023-019-1097-2.
<span class="bold">PMID: </span><a href="/pubmed/31286966" target="_blank">31286966</a><a href="/pmc/articles/PMC6615163" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26497573">Safety of topical corticosteroids in pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chi CC,
Wang SH,
Wojnarowska F,
Kirtschig G,
Davies E,
Bennett C</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2015 Oct 26;2015(10):CD007346.
doi: 10.1002/14651858.CD007346.pub3.
<span class="bold">PMID: </span><a href="/pubmed/26497573" target="_blank">26497573</a><a href="/pmc/articles/PMC8558096" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20skin%20pigmentation%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 (8)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1260926%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
<li><a href="/gtr/tests?term=C1260926%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
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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%20skin%20pigmentation)%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(%22Abnormality%20of%20skin%20pigmentation%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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