Dowling-degos Disease 2; Ddd2

Description

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 DisordersMuller 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}.

Clinical Features

Phenotypes and symptoms related to Dowling-degos Disease 2; Ddd2

  • Hyperkeratosis
  • Erythema
  • Papule
  • Follicular hyperkeratosis
  • Acantholysis
  • Facial erythema
  • Reticular hyperpigmentation
  • Hyperkeratotic papule
  • Hypomelanotic macule

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Dowling-degos Disease 2; Ddd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
POFUT1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

POFUT1
Specificity
100 %
Genes
100 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH (Germany).

BLM, SLC40A1, SNAI2, SOX10, STK11, TFR2, POFUT1, HAMP, ADAM10, LYST, SPRED1, ADAR, POGLUT1, EPG5, MLPH, EDN3, EDNRB, ENPP1, ABCB6, HFE , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
POFUT1.

By Fulgent Genetics Fulgent Genetics (United States).

POFUT1
Specificity
100 %
Genes
100 %
Dowling-Degos Disease Type 2 , Sequencing POFUT1 Gene.

By Reference Laboratory Genetics (Spain).

POFUT1
Specificity
100 %
Genes
100 %
Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics (Spain).

POFUT1, ADAM10, ADAR, POGLUT1, KRT14, KRT5
Specificity
17 %
Genes
100 %

We have -3 more panels available in our App

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Sources and references

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OMIM Rare Disease Search Engine

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