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

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
 

Author(s): F Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M Pasternack, Holger Thiele, Günter Fritz, Jörg Wenzel, Leopold Größer, Maria Wehner, Sabrina Wolf, Christina Fagerberg, Anette Bygum, Janine Altmüller, Arno Rütten, Laurent Parmentier, Laila El Shabrawi-Caelen, Christian Hafner, Peter Nürnberg, Roland Kruse, Susanne Schoch, Sandra Hanneken, Regina C Betz

Journal: Am. J. Hum. Genet.. 2014 Jan;94(1):135-43.

 

Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. ...

Last Updated: 6 Jan 2014

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Follicular Dowling Degos disease: a rare variant of an evolving dermatosis.
 

Author(s): Saurabh Singh, Sujay Khandpur, Parul Verma, Manoj Singh

Journal: Indian J Dermatol Venereol Leprol. ;79(6):802-4.

 

Dowling Degos disease is a rare, reticulate pigmentary disorder with variable phenotypic expression that manifests as hyperpigmented macules and reticulate pigmentary anomaly of the flexures. Many variants of this condition and its overlap with other reticulate pigmentary disorders ...

Last Updated: 1 Nov 2013

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Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.
 

Author(s): Ming Li, Ruhong Cheng, Jianying Liang, Heng Yan, Hui Zhang, Lijia Yang, Chengrang Li, Qingqing Jiao, Zhiyong Lu, Jianhui He, Jin Ji, Zhu Shen, Chunqi Li, Fei Hao, Hong Yu, Zhirong Yao

Journal: Am. J. Hum. Genet.. 2013 Jun;92(6):895-903.

 

Dowling-Degos disease (DDD), or reticular pigmented anomaly of the flexures, is a type of rare autosomal-dominant genodermatosis characterized by reticular hyperpigmentation and hypopigmentation of the flexures, such as the neck, axilla, and areas below the breasts and groin, and ...

Last Updated: 19 Nov 2013

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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