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Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Disease definition

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.

ORPHA:85112

  • Synonym(s):
    • Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q56.0
  • OMIM: 610644
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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