{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:02:21Z","timestamp":1791234141929,"version":"4.1.0"},"reference-count":106,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T00:00:00Z","timestamp":1752710400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Dowling\u2013Degos disease (DDD) is a rare, genetically heterogeneous pigmentation disorder with an autosomal dominant pattern of inheritance. While DDD shows wide clinical variability, a defining feature is reticulate hyperpigmentation, which typically emerges after puberty and worsens progressively thereafter. Additionally, affected individuals may experience symptoms such as itching, burning and\/or inflammatory changes to the skin. DDD also shows histopathological diversity. However, hallmark features include thinning of the suprapapillary epidermis and elongation of the rete ridges with melanin deposition in the basal layers. While early researchers assumed that DDD was attributable to a single disease gene, and predominantly affected the flexural areas, over the last 20\u2005years understanding of DDD has expanded substantially. To date, five causal genes have been identified: KRT5, POFUT1, POGLUT1, PSENEN and GLMN. Each gene is associated with frequently recurring phenotypic characteristics. In terms of hyperpigmentation, pathogenic variants in KRT5, POFUT1 and POGLUT1 primarily affect intertriginous regions, acrogenital areas and the extremities, respectively. Pathogenic PSENEN variants increase susceptibility to hidradenitis suppurativa, particularly in predisposed individuals, while GLMN variants may be associated with a distinctive clinical feature, namely glomuvenous malformations. Despite advances in our understanding of the genetic architecture of DDD, no causal treatment is yet available. While symptomatic therapies such as ablative laser treatment have shown promise in terms of reducing pigmentation, potential risks have also been identified, including postinflammatory hyperpigmentation. This review outlines the path that led to current understanding of the complex genetic basis of DDD. On the basis of this, we propose an approach for clinical subphenotyping in patients with suspected DDD, which will facilitate targeted genetic analysis based on observed genotype\u2013phenotype correlations. Furthermore, the review addresses key issues of DDD, including the debated term \u2018Galli\u2013Galli disease\u2019, the psychosocial impact and treatment of DDD, as well as emerging insights into Notch signalling as a pathogenic mechanism.<\/jats:p>","DOI":"10.1093\/bjd\/ljaf286","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T10:11:07Z","timestamp":1752747067000},"page":"1075-1089","source":"Crossref","is-referenced-by-count":5,"title":["Beneath the surface: delineating the subtypes of Dowling\u2013Degos disease"],"prefix":"10.1093","volume":"193","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5240-079X","authenticated-orcid":false,"given":"Sheetal","family":"Kumar","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn , Bonn ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8916-7605","authenticated-orcid":false,"given":"Damian J","family":"Ralser","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn , Bonn ,","place":["Germany"]},{"name":"Department of Gynecology and Gynecological Oncology, Center for Integrated Oncology, University Hospital Bonn, University of Bonn , Bonn ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4744-5993","authenticated-orcid":false,"given":"Joerg","family":"Wenzel","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University Hospital Bonn, University of Bonn , Bonn ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1439-8577","authenticated-orcid":false,"given":"Jorge","family":"Frank","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology, University Medical Center G\u00f6ttingen , G\u00f6ttingen ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5024-3623","authenticated-orcid":false,"given":"Regina C","family":"Betz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn , Bonn ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,7,17]]},"reference":[{"key":"2025111813172191700_ljaf286-B1","doi-asserted-by":"crossref","first-page":"1150","DOI":"10.1001\/archderm.1978.01640200004002","article-title":"Reticulate pigmented anomaly of the flexures: Dowling Degos disease, a new genodermatosis","volume":"114","author":"Jones","year":"1978","journal-title":"Arch Dermatol"},{"key":"2025111813172191700_ljaf286-B2","first-page":"1147","article-title":"Acanthosis nigricans","volume":"31","author":"Dowling","year":"1938","journal-title":"Proc R Soc Med"},{"key":"2025111813172191700_ljaf286-B3","first-page":"147","article-title":"[Reticulated pigmentary dermatosis of the folds: relation to acanthosis nigricans]","volume":"81","author":"Degos","year":"1954","journal-title":"Ann Dermatol Syphiligr (Paris)"},{"key":"2025111813172191700_ljaf286-B4","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/500850","article-title":"Loss-of-function mutations in the keratin 5 gene lead to Dowling\u2013Degos disease","volume":"78","author":"Betz","year":"2006","journal-title":"Am J Hum Genet"},{"key":"2025111813172191700_ljaf286-B5","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1007\/s00105-011-2222-x","article-title":"[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients]","volume":"62","author":"Hanneken","year":"2011","journal-title":"Hautarzt"},{"key":"2025111813172191700_ljaf286-B6","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1111\/ddg.15111_g","article-title":"POGLUT1-Varianten bei Morbus Dowling\u2013Degos \u2013 \u200cAssoziation mit spezifischen klinischen und histopathologischen Merkmalen?","volume":"21","author":"Kumar","year":"2023","journal-title":"J Dtsch Dermatol Ges"},{"key":"2025111813172191700_ljaf286-B7","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1111\/bjd.15575","article-title":"Updated review of genetic reticulate pigmentary disorders","volume":"177","author":"Zhang","year":"2017","journal-title":"Br J Dermatol"},{"key":"2025111813172191700_ljaf286-B8","doi-asserted-by":"crossref","first-page":"3524","DOI":"10.1093\/hmg\/ddt207","article-title":"Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate 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