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Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Disease definition

Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

ORPHA:659

  • Synonym(s):
    • Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
    • Olmsted syndrome
    • Palmoplantar and periorificial keratoderma
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or X-linked recessive or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: 300918  614594
  • UMLS: C2609071
  • MeSH: -
  • GARD: 4075
  • MedDRA: 10068842

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