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<meta name="keywords" content="C3809147, ddd2, disease or syndrome, dowling-degos disease 2, dowling-degos disease caused by mutation in pofut1, dowling-degos disease type 2, pofut1, pofut1 dowling-degos disease, 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), reticulate acropigmentation of Dohi (DSH, 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. For a discussion of genetic heterogeneity of reticulate pigment disorders, see 179850." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=815477
|
||
ConceptID=C3809147
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Dowling-Degos disease 2<span class="h1sub">(DDD2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815477</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:">C3809147</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>DDD2</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="POFUT1 - ID: 23509 - NCBI Gene" href="/gene/23509" class="medgenPMinfo">POFUT1</a> (20q11.21)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014130" target="_blank">MONDO:0014130</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615327" target="_blank">615327</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>
|
||
<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), reticulate acropigmentation of Dohi (DSH, 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. For a discussion of genetic heterogeneity of reticulate pigment disorders, see 179850. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_83101"><div><strong>Phrynoderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83101</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.">C0334013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83101">Feature record</a> | <a href="/medgen?term=%22Phrynoderma%22%5BClinical%20Features%5D%20OR%2083101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338832"><div><strong>Reticular hyperpigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338832</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.">C1851972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased pigmentation of the skin with a netlike (reticular) pattern.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338832">Feature record</a> | <a href="/medgen?term=%22Reticular%20hyperpigmentation%22%5BClinical%20Features%5D%20OR%20338832%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_852209"><div><strong>Hyperkeratotic papule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>852209</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.">C2047516</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/852209">Feature record</a> | <a href="/medgen?term=%22Hyperkeratotic%20papule%22%5BClinical%20Features%5D%20OR%20852209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869790"><div><strong>Hypomelanotic macule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869790</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.">C4024220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869790">Feature record</a> | <a href="/medgen?term=%22Hypomelanotic%20macule%22%5BClinical%20Features%5D%20OR%20869790%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_852209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperkeratotic papule</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomelanotic macule</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phrynoderma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticular hyperpigmentation</a></span></li></ul></li></ul></div></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="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="TLclosed"><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"><a href="/medgen/1645697" ref="tree=GTR&ncbi_uid=1645697&link_uid=1645697" title="View MedGen record for 'Dowling-Degos disease 1'">Dowling-Degos disease 1</a></span></li><li class="matched_ds"><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">Dowling-Degos disease 2</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 2</span></li></ul></li></ul></li></ul></div></div></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/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/30561771">Hidradenitis suppurativa of the nape: Description of an atypical phenotype related to severe early-onset disease in men.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agut-Busquet E,
|
||
Romaní J,
|
||
Ribera M,
|
||
Luelmo J</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2019 Feb;46(2):149-153.
|
||
Epub 2018 Dec 18
|
||
doi: 10.1111/1346-8138.14722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30561771" target="_blank">30561771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9529553">Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lestringant GG,
|
||
Masouyé I,
|
||
Frossard PM,
|
||
Adeghate E,
|
||
Galadari IH</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
1997;195(4):337-43.
|
||
doi: 10.1159/000245984.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9529553" target="_blank">9529553</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dowling-Degos%20disease%202%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/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/20520945">Case for diagnosis. Dowling-Degos disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hohmann CB,
|
||
Köche B,
|
||
Bonamigo RR,
|
||
Dornelles ST,
|
||
Cattani CA</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2010 Mar-Apr;85(2):241-3.
|
||
doi: 10.1590/s0365-05962010000200020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20520945" target="_blank">20520945</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1781755">Reticulate pigmented anomaly of the flexures of Dowling Degos disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Australas J Dermatol</span>
|
||
1991;32(2):120.
|
||
doi: 10.1111/j.1440-0960.1991.tb00080.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1781755" target="_blank">1781755</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 />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
1988 Mar;27(2):96-7.
|
||
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%202%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 (10)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30281812">Full ablative versus fractional ablative laser therapy for Dowling-Degos disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seitz AT,
|
||
Sterz H,
|
||
Strehlow V,
|
||
Nagel S,
|
||
Dumann K,
|
||
Grunewald S,
|
||
Simon JC,
|
||
Kunz M</span><br />
|
||
<span class="medgenPMjournal">Lasers Surg Med</span>
|
||
2019 Apr;51(4):321-324.
|
||
Epub 2018 Oct 3
|
||
doi: 10.1002/lsm.23021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30281812" target="_blank">30281812</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/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 />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
1988 Mar;27(2):96-7.
|
||
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%202%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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/30561771">Hidradenitis suppurativa of the nape: Description of an atypical phenotype related to severe early-onset disease in men.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agut-Busquet E,
|
||
Romaní J,
|
||
Ribera M,
|
||
Luelmo J</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2019 Feb;46(2):149-153.
|
||
Epub 2018 Dec 18
|
||
doi: 10.1111/1346-8138.14722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30561771" target="_blank">30561771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30281812">Full ablative versus fractional ablative laser therapy for Dowling-Degos disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seitz AT,
|
||
Sterz H,
|
||
Strehlow V,
|
||
Nagel S,
|
||
Dumann K,
|
||
Grunewald S,
|
||
Simon JC,
|
||
Kunz M</span><br />
|
||
<span class="medgenPMjournal">Lasers Surg Med</span>
|
||
2019 Apr;51(4):321-324.
|
||
Epub 2018 Oct 3
|
||
doi: 10.1002/lsm.23021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30281812" target="_blank">30281812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9529553">Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lestringant GG,
|
||
Masouyé I,
|
||
Frossard PM,
|
||
Adeghate E,
|
||
Galadari IH</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
1997;195(4):337-43.
|
||
doi: 10.1159/000245984.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9529553" target="_blank">9529553</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dowling-Degos%20disease%202%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3809147%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809147%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3809147%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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=615327" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Dowling-Degos%20disease%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca70b1a68b6b5afc88d172">Distal myopathy with posterior leg and anterior hand involvement</a>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ca70aff4a390645e58b043">C3279722[conceptid] <span class="number">(1)</span></a>
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