Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Definition
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized 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 etiology is unknown.
Also known as palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome — per MONDO