Conditions / Syndrome

palmoplantar keratoderma and congenital alopecia 2

info ยท Syndrome

An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.

Signs and symptoms

  • Alopecia totalis
  • Facial erythema
  • Nail dysplasia
  • Camptodactyly of finger
  • Sclerodactyly
  • Dry skin
  • Keratosis pilaris
  • Developmental cataract
  • Amniotic constriction ring
  • Palmoplantar hyperkeratosis

Also known as: CASS; PPK-CA, Wallis type; PPKCA Wallis type; PPKCA2; autosomal recessive palmoplantar hyperkeratosis and congenital alopecia