This syndrome has characteristics of 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.
syndroom van palmoplantaire hyperkeratose, XX-geslachtsomkering en predispositie voor plaveiselcelcarcinoom