Diseases title

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

Virus
Orpha Number: 85112
Synonym(s):
Palmoplantar hyperkeratosis - XX sex reversal - predisposition to squamous cell carcinoma

This 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.
source: Orphanet