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Punctate palmoplantar keratoderma type 1

Disease definition

Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..

ORPHA:79501

  • Synonym(s):
    • Buschke-Fischer-Brauer syndrome
    • Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
    • PPKP1
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: Q82.8
  • OMIM: 148600  614936
  • UMLS: -
  • MeSH: -
  • GARD: 3103
  • MedDRA: -

Additional information

Further information on this disease

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