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Autosomal recessive palmoplantar keratoderma and congenital alopecia

Disease 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.

ORPHA:1366

  • Synonym(s):
    • Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
    • Cataract-alopecia-sclerodactyly syndrome
    • PPK-CA, Wallis type
    • Palmoplantar keratoderma and congenital alopecia, Wallis type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q82.8  Q84.0
  • OMIM: 212360
  • UMLS: C1859316
  • MeSH: C535336
  • GARD: 1139
  • MedDRA: -

Additional information

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