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GENATLAS PHENOTYPE

last update : 29-05-2013

Symbol	DDD
Location	12q13.13
Name	Dowling-Degos disease
Other name(s)	reticular pigment anomaly or flexures
Corresponding gene	KRT5
Other symbol(s)	RPAF1
Main clinical features	postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds, and at histology filiform epithelial downgrowth of epidermal rete ridges, with a concentration of melanin at the tips
Genetic determination	autosomal dominant
Related entries	including Galli-Galli disease (GGD is indeed a variant of DDD) (PMID: 20222933)
Function/system disorder	connective tissue
	dermatology
Type	disease

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