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<meta name="keywords" content="C4552092, ddd, ddd1, disease or syndrome, dowling-degos disease 1, dowling-degos disease caused by mutation in krt5, krt5, krt5 dowling-degos disease, reticular pigment anomaly of flexures, 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="Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013). Review of Reticulate Pigment Disorders Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK; 615537), reticulate acropigmentation of Dohi (RAD; 127400), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. Genetic Heterogeneity of Reticulate Pigment Disorders Dowling-Degos disease-2 (DDD2; 615327) is caused by mutation in the POFUT1 gene (607491) on chromosome 20q11. Dowling-Degos disease-3 (DDD3; 615674) has been mapped to chromosome 17p33.3. Dowling-Degos disease-4 (DDD4; 615696) is caused by mutation in the POGLUT1 gene (615618) on chromosome 3q13. Dyschromatosis symmetrica hereditaria (DSH; 127400), also known as reticulate acropigmentation of Dohi (RAD), is caused by mutation in the ADAR gene (146920) on chromosome 1q21. Reticulate acropigmentation of Kitamura (RAK; 615537) is caused by mutation in the ADAM10 gene (602192) on chromosome 15q21." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1645697
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||
ConceptID=C4552092
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Dowling-Degos disease 1<span class="h1sub">(DDD1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645697</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4552092</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>DDD1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="KRT5 - ID: 3852 - NCBI Gene" href="/gene/3852" class="medgenPMinfo">KRT5</a> (12q13.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0024534" target="_blank">MONDO:0024534</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/179850" target="_blank">179850</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013). Review of Reticulate Pigment Disorders Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK; 615537), reticulate acropigmentation of Dohi (RAD; 127400), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. Genetic Heterogeneity of Reticulate Pigment Disorders Dowling-Degos disease-2 (DDD2; 615327) is caused by mutation in the POFUT1 gene (607491) on chromosome 20q11. Dowling-Degos disease-3 (DDD3; 615674) has been mapped to chromosome 17p33.3. Dowling-Degos disease-4 (DDD4; 615696) is caused by mutation in the POGLUT1 gene (615618) on chromosome 3q13. Dyschromatosis symmetrica hereditaria (DSH; 127400), also known as reticulate acropigmentation of Dohi (RAD), is caused by mutation in the ADAR gene (146920) on chromosome 1q21. Reticulate acropigmentation of Kitamura (RAK; 615537) is caused by mutation in the ADAM10 gene (602192) on chromosome 15q21. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow, back of the knee, and under the breasts. Less commonly, pigmentation changes can also occur on the neck, wrists, back of the hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation typically cause no health problems.<br /><br />Individuals with Dowling-Degos disease may also have dark spots (lesions) on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or pitted scars on the face similar to acne scars but with no history of acne. Fluid-filled sacs within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented).<br /><br />In rare cases, individuals with Dowling-Degos disease experience itching (pruritus) or burning sensations on the skin. These feelings can be triggered by UV light, sweating, or friction on the skin.<br /><br />The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes associated with Dowling-Degos disease may cause distress or anxiety, they typically cause no other health problems.<br /><br />A condition called Galli-Galli disease has signs and symptoms similar to those of Dowling-Degos disease. In addition to pigmentation changes, individuals with Galli-Galli disease also have a breakdown of cells in the outer layer of skin (acantholysis). Acantholysis can cause skin irritation and itchiness and lead to reddened or missing patches of skin (erosions). These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition. <a target="_blank" href="https://medlineplus.gov/genetics/condition/dowling-degos-disease">https://medlineplus.gov/genetics/condition/dowling-degos-disease</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_870426"><div><strong>Progressive reticulate hyperpigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870426</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4024872</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/870426">Feature record</a> | <a href="/medgen?term=%22Progressive%20reticulate%20hyperpigmentation%22%5BClinical%20Features%5D%20OR%20870426%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive reticulate hyperpigmentation</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811363" target="_blank" href="/omim/179850">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/811363" ref="tree=GTR&ncbi_uid=811363&link_uid=811363" title="View MedGen record for 'Dowling-Degos disease'">Dowling-Degos disease</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4552092[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645697">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645697" target="_blank" href="/omim/148040">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645697" ref="ncbi_uid=1645697">V</a></span></span><span class="TLline">Dowling-Degos disease 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809147[DISCUI]&test_type=Clinical" ref="ncbi_uid=815477">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815477" target="_blank" href="/omim/607491">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815477" ref="ncbi_uid=815477">V</a></span></span><span class="TLline"><a href="/medgen/815477" ref="tree=GTR&ncbi_uid=815477&link_uid=815477" title="View MedGen record for 'Dowling-Degos disease 2'">Dowling-Degos disease 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816616" target="_blank" href="/omim/615674">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/816616" ref="tree=GTR&ncbi_uid=816616&link_uid=816616" title="View MedGen record for 'Dowling-degos disease 3'">Dowling-degos disease 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3810313[DISCUI]&test_type=Clinical" ref="ncbi_uid=816643">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816643" target="_blank" href="/omim/615618">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816643" ref="ncbi_uid=816643">V</a></span></span><span class="TLline"><a href="/medgen/816643" ref="tree=GTR&ncbi_uid=816643&link_uid=816643" title="View MedGen record for 'Dowling-Degos disease 4'">Dowling-Degos disease 4</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842264" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation with skin involvement">Congenital disorder of glycosylation with skin involvement</a></span><ul><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="matched_ds">Dowling-Degos disease 1</span></li></ul></li></ul></li></ul></div></div></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/31724740">Grover disease: review of subtypes with a focus on management options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aldana PC,
|
||
Khachemoune A</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2020 May;59(5):543-550.
|
||
Epub 2019 Nov 14
|
||
doi: 10.1111/ijd.14700.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31724740" target="_blank">31724740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20199538">Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arin MJ,
|
||
Grimberg G,
|
||
Schumann H,
|
||
De Almeida H Jr,
|
||
Chang YR,
|
||
Tadini G,
|
||
Kohlhase J,
|
||
Krieg T,
|
||
Bruckner-Tuderman L,
|
||
Has C</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2010 Jun;162(6):1365-9.
|
||
Epub 2010 Feb 25
|
||
doi: 10.1111/j.1365-2133.2010.09657.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20199538" target="_blank">20199538</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(dowling-degos%20disease%201)%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 (2)</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/39260459">Cancer and hidradenitis suppurativa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen PR,
|
||
Cohen-Kurzrock RA,
|
||
Riahi RR</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
2024 Nov-Dec;42(6):585-601.
|
||
Epub 2024 Sep 10
|
||
doi: 10.1016/j.clindermatol.2024.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39260459" target="_blank">39260459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37372478">Inherited Reticulate Pigmentary Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin MH,
|
||
Chou PC,
|
||
Lee IC,
|
||
Yang SF,
|
||
Yu HS,
|
||
Yu S</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Jun 20;14(6)
|
||
doi: 10.3390/genes14061300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37372478" target="_blank">37372478</a><a href="/pmc/articles/PMC10298214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31449063">Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang A,
|
||
Cheung K,
|
||
Kossard S,
|
||
Murrell DF</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2020 Jul;42(7):484-490.
|
||
doi: 10.1097/DAD.0000000000001467.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31449063" target="_blank">31449063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31120546">Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agut-Busquet E,
|
||
González-Villanueva I,
|
||
Romani de Gabriel J,
|
||
Pascual JC,
|
||
Ribera Pibernat M,
|
||
Luelmo J</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2019 Sep 1;99(10):917-918.
|
||
doi: 10.2340/00015555-3225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31120546" target="_blank">31120546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28407215">Updated review of genetic reticulate pigmentary disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Li M,
|
||
Yao Z</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2017 Oct;177(4):945-959.
|
||
Epub 2017 Sep 27
|
||
doi: 10.1111/bjd.15575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28407215" target="_blank">28407215</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dowling-Degos%20disease%201%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37625796">Altered Notch signalling in Dowling-Degos disease: a transcriptomic insight into disease pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar S,
|
||
Hausen J,
|
||
Sivalingam S,
|
||
Humbatova A,
|
||
Buness A,
|
||
Frank J,
|
||
Ralser DJ,
|
||
Betz RC</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2023 Nov 16;189(6):772-774.
|
||
doi: 10.1093/bjd/ljad306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37625796" target="_blank">37625796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33368260">Dowling-Degos disease: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stephan C,
|
||
Kurban M,
|
||
Abbas O</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2021 Aug;60(8):944-950.
|
||
Epub 2020 Dec 23
|
||
doi: 10.1111/ijd.15385.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33368260" target="_blank">33368260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31195785">Classic Dowling Degos disease: a rare genodermatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piccolo V,
|
||
Corneli P,
|
||
Russo T,
|
||
Danielsson M,
|
||
Zalaudek I,
|
||
Argenziano G</span><br />
|
||
<span class="medgenPMjournal">Ital J Dermatol Venerol</span>
|
||
2021 Dec;156(Suppl. 1 to No. 6):71-72.
|
||
Epub 2019 Jun 12
|
||
doi: 10.23736/S2784-8671.19.06386-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31195785" target="_blank">31195785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31054170">Just vulval lichen simplex?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McSweeney SM,
|
||
Woolf RT,
|
||
Calonje E,
|
||
Lewis F</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2020 Mar;45(2):232-234.
|
||
Epub 2019 May 3
|
||
doi: 10.1111/ced.13982.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31054170" target="_blank">31054170</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31120546">Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agut-Busquet E,
|
||
González-Villanueva I,
|
||
Romani de Gabriel J,
|
||
Pascual JC,
|
||
Ribera Pibernat M,
|
||
Luelmo J</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2019 Sep 1;99(10):917-918.
|
||
doi: 10.2340/00015555-3225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31120546" target="_blank">31120546</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dowling-Degos%20disease%201%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 (54)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31120546">Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agut-Busquet E,
|
||
González-Villanueva I,
|
||
Romani de Gabriel J,
|
||
Pascual JC,
|
||
Ribera Pibernat M,
|
||
Luelmo J</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2019 Sep 1;99(10):917-918.
|
||
doi: 10.2340/00015555-3225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31120546" target="_blank">31120546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25495801">Successful treatment of Dowling-Degos disease using intense pulsed light.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta A,
|
||
Huilgol SC</span><br />
|
||
<span class="medgenPMjournal">Australas J Dermatol</span>
|
||
2015 Aug;56(3):e63-5.
|
||
Epub 2014 Dec 13
|
||
doi: 10.1111/ajd.12232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25495801" target="_blank">25495801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23464495">Treatment of Dowling-Degos disease with fractional Er:YAG laser.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yun JH,
|
||
Kim JH,
|
||
Choi JS,
|
||
Roh JY,
|
||
Lee JR</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Laser Ther</span>
|
||
2013 Dec;15(6):336-9.
|
||
Epub 2013 Mar 6
|
||
doi: 10.3109/14764172.2013.764437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23464495" target="_blank">23464495</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/2966131">Haber's syndrome and Dowling-Degos disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kikuchi I,
|
||
Crovato F,
|
||
Rebora A</span><br />
|
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<span class="medgenPMjournal">Int J Dermatol</span>
|
||
1988 Mar;27(2):96-7.
|
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doi: 10.1111/j.1365-4362.1988.tb01279.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2966131" target="_blank">2966131</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dowling-Degos%20disease%201%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39260459">Cancer and hidradenitis suppurativa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen PR,
|
||
Cohen-Kurzrock RA,
|
||
Riahi RR</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
2024 Nov-Dec;42(6):585-601.
|
||
Epub 2024 Sep 10
|
||
doi: 10.1016/j.clindermatol.2024.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39260459" target="_blank">39260459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31724740">Grover disease: review of subtypes with a focus on management options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aldana PC,
|
||
Khachemoune A</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2020 May;59(5):543-550.
|
||
Epub 2019 Nov 14
|
||
doi: 10.1111/ijd.14700.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31724740" target="_blank">31724740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28407215">Updated review of genetic reticulate pigmentary disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Li M,
|
||
Yao Z</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2017 Oct;177(4):945-959.
|
||
Epub 2017 Sep 27
|
||
doi: 10.1111/bjd.15575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28407215" target="_blank">28407215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26496195">Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramkumar N,
|
||
Harvey BM,
|
||
Lee JD,
|
||
Alcorn HL,
|
||
Silva-Gagliardi NF,
|
||
McGlade CJ,
|
||
Bestor TH,
|
||
Wijnholds J,
|
||
Haltiwanger RS,
|
||
Anderson KV</span><br />
|
||
<span class="medgenPMjournal">PLoS Genet</span>
|
||
2015 Oct;11(10):e1005551.
|
||
Epub 2015 Oct 23
|
||
doi: 10.1371/journal.pgen.1005551.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26496195" target="_blank">26496195</a><a href="/pmc/articles/PMC4619674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9431718">Hidradenitis suppurativa, Dowling Degos disease and perianal squamous cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li M,
|
||
Hunt MJ,
|
||
Commens CA</span><br />
|
||
<span class="medgenPMjournal">Australas J Dermatol</span>
|
||
1997 Nov;38(4):209-11.
|
||
doi: 10.1111/j.1440-0960.1997.tb01700.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9431718" target="_blank">9431718</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dowling-Degos%20disease%201%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37665193">A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Oliveira ASLE,
|
||
de Siqueira RC,
|
||
Nait-Meddour C,
|
||
Tricarico PM,
|
||
Moura R,
|
||
Agrelli A,
|
||
d'Adamo AP,
|
||
Jamain S,
|
||
Crovella S,
|
||
de Fátima Medeiros Brito M,
|
||
Boniotto M,
|
||
Brandão LAC</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2023 Nov;32(11):1935-1945.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1111/exd.14919.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37665193" target="_blank">37665193</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36919394">Dowling-Degos Disease in the Anogenital Region.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belamarić M,
|
||
Ljubojević Hadžavdić S</span><br />
|
||
<span class="medgenPMjournal">Acta Dermatovenerol Croat</span>
|
||
2022 Dec;30(4):261-262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36919394" target="_blank">36919394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31692218">Epidermal keratin 5 expression and distribution is under dermal influence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cario M,
|
||
Pain C,
|
||
Kaulanjan-Checkmodine P,
|
||
Masia D,
|
||
Delia G,
|
||
Casoli V,
|
||
Costet P,
|
||
Goussot JF,
|
||
Guyonnet-Duperat V,
|
||
Bibeyran A,
|
||
Ezzedine K,
|
||
Reymermier C,
|
||
Andre-Frei V,
|
||
Taieb A</span><br />
|
||
<span class="medgenPMjournal">Pigment Cell Melanoma Res</span>
|
||
2020 May;33(3):435-445.
|
||
Epub 2019 Nov 26
|
||
doi: 10.1111/pcmr.12844.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31692218" target="_blank">31692218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23018017">The spectrum of reticulate pigment disorders of the skin revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Müller CS,
|
||
Tremezaygues L,
|
||
Pföhler C,
|
||
Vogt T</span><br />
|
||
<span class="medgenPMjournal">Eur J Dermatol</span>
|
||
2012 Sep-Oct;22(5):596-604.
|
||
doi: 10.1684/ejd.2012.1829.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23018017" target="_blank">23018017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10071319">Dowling-Degos disease (reticulate pigmented anomaly of the flexures): a clinical and histopathologic study of 6 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim YC,
|
||
Davis MD,
|
||
Schanbacher CF,
|
||
Su WP</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1999 Mar;40(3):462-7.
|
||
doi: 10.1016/s0190-9622(99)70498-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10071319" target="_blank">10071319</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dowling-Degos%20disease%201%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 (17)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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||
<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4552092%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C4552092%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C4552092%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4552092%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=179850" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Dowling-Degos%20disease%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(dowling-degos%20disease%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=148040" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3852[geneid]" target="_blank">View KRT5 variations in ClinVar</a></li><li><a href="/nuccore/194473689" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=179850" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/dowling_degos_disease_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Dowling-Degos%20disease%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/dowling-degos-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
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|
||
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|
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<div class="portlet brieflink">
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||
<div class="portlet_head">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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<li>
|
||
<a href="/pubmed/clinical?term=Dowling-Degos%20disease%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Dowling-Degos%20disease%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
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</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
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||
</div>
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||
<div class="portlet_content DiscoveryDbLinks">
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||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645697" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1645697" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4552092[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4552092[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=1645697" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1645697" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1645697" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
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