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Autosomal dominant palmoplantar keratoderma and congenital alopecia

Disease definition

A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.

ORPHA:1010

Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
    • PPK-CA, Stevanovic type
    • Palmoplantar keratoderma and congenital alopecia, Stevanovic type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: 104100
  • UMLS: C1863093
  • MeSH: -
  • GARD: 604
  • MedDRA: -

Detailed information

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