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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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 18 free, full-text research articles on human participants. First 3 results:

Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease.
 

Author(s): Neha Virmani, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Jagdish Sakhiya, Chirag Desai, Sridhar Sivasubbu, Vinod Scaria

Journal: Indian J Dermatol Venereol Leprol. ;84(3):344-346.

 

Last Updated: 31 Dec 1969

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Generalized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge.
 

Author(s): Anupama Ghosh, Piyush Kumar, Anupam Das

Journal: Indian J Dermatol Venereol Leprol. ;84(1):70-72.

 

Last Updated: 31 Dec 1969

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PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?
 

Author(s): Chengrang Li, Wenrui Li, Haoxiang Xu, Xiaofeng Zhang, Bin Su, Wanlu Zhang, Xue Zhang, Baoxi Wang

Journal: J. Invest. Dermatol.. 2017 10;137(10):2234-2236.

 

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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