palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0017576
46,XX disorder of sex development
is_a
MONDO:0017666
diffuse palmoplantar keratoderma
is_a
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
exact
palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
exact