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Keratoderma hereditarium mutilans with ichthyosis

Disease definition

Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.

ORPHA:79395

Classification level: Disorder
  • Synonym(s):
    • Camisa disease
    • Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
    • Loricrin keratoderma
    • Vohwinkel syndrome with ichthyosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q82.8
  • OMIM: 604117
  • UMLS: C1858805
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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