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Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Disease definition

Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.

ORPHA:293165

Classification level: Disorder
  • Synonym(s):
    • Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q82.8
  • OMIM: 607655
  • UMLS: -
  • MeSH: -
  • GARD: 5231
  • MedDRA: -
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