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).
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.Dowling-degos Disease 2; Ddd2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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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 % |
You can get up to -3 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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