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Autosomal recessive palmoplantar keratoderma and congenital alopecia

ORPHA:1366· ICD-10 Q84.0

Definition

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Neonatal