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GENATLAS PHENOTYPE
last update : 26-03-2010
Symbol DPIR
Location 17q21.2
Name dermatopathia pigmentosa reticularis
Corresponding gene KRT14
Main clinical features
  • triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy associated to variable features including adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis
  • reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin with lifelong persistence of the skin hyperpigmentation, partial alopecia, and absence of dental anomalies
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Remark(s)