Orphanet: Powell Venencie Gordon syndrome

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Palmoplantar keratoderma-spastic paralysis syndrome

Disease definition

A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.


Classification level: Disorder
  • Synonym(s):
    • Palmoplantar hyperkeratosis-spastic paralysis syndrome
    • Powell-Venencie-Gordon syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: -
  • OMIM: 148360
  • UMLS: C1835671  C2931828
  • MeSH: C536153
  • GARD: 3095
  • MedDRA: -
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