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References OMIM Gene GeneReviews HGMD HGNC
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
    Type disease