Dowling-Degos Disease

Common Name(s)

Dowling-Degos Disease, Reticulate acropigmentation of Kitamura

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 {13:Li et al., 2013}). Review of Reticulate Pigment Disorders {16: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. {16: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). {16: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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dowling-Degos Disease" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dowling-Degos Disease" returned 14 free, full-text research articles on human participants. First 3 results:

Dowling-Degos disease and malignant melanoma: Association or mere coincidence?
 

Author(s): Vishal Gupta, Kanika Sahni, Prakash Khute, Vinod K Sharma, Mohammad Firdaus Ali

Journal: Indian J Dermatol Venereol Leprol. ;81(6):627-8.

 

Last Updated: 30 Oct 2015

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Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
 

Author(s): F Buket Basmanav, Günter Fritz, Gilles G Lestringant, Divya Pachat, Sabine Hoffjan, Johannes Fischer, Maria Wehner, Sabrina Wolf, Holger Thiele, Janine Altmüller, Susanne A Pulimood, Arno Rütten, Roland Kruse, Sandra Hanneken, Jorge Frank, Sumita Danda, Anette Bygum, Regina C Betz

Journal: J. Invest. Dermatol.. 2015 Feb;135(2):615-8.

 

Last Updated: 9 Jan 2015

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Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.
 

Author(s): Mingfei Chen, Yi Li, Hong Liu, Xi'an Fu, Yiongxiang Yu, Gongqi Yu, Chuan Wang, Fangfang Bao, Herty Liany, Zhenzhen Wang, Zhongxiang Shi, Dizhan Zhang, Guizhi Zhou, Jianjun Liu, Furen Zhang

Journal:

 

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 ...

Last Updated: 27 Aug 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dowling-Degos Disease" returned 1 free, full-text review articles on human participants. First 3 results:

Dowling-Degos disease involving the vulva and back: case report and review of the literature.
 

Author(s): Mary E Horner, Katherine E Parkinson, Valda Kaye, Peter J Lynch

Journal:

 

Dowling-Degos disease is a rarely encountered pigmentary disorder in which small brown-to-black macules appear in a clustered or reticulated pattern primarily at flexural sites. It usually occurs as an autosomal dominant trait but sporadic cases have also been reported. Dowling-Degos ...

Last Updated: 3 Aug 2011

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Symptoms, Diagnosis, and Treatment

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