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GENATLAS PHENOTYPE
last update : 07-10-2009
Symbol CIEHK
Location 17q21.3
Name ichthiosis cyclic, with epidermolytic hyperkeratosis
Corresponding gene KRT10
Main clinical features
  • erythema and superficial erosions at birth, which improved during the first few months of life, later, palmoplantar hyperkeratosis with patchy erythema and scale developed elsewhere on the body
  • histologic findings of epidermolytic hyperkeratosis, a hallmark feature of bullous congenital ichthyosiform erythroderma
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Remark(s)