Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (PPK-SCC) is a form of 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 is one of the most important genes controlling female gonadal differentiation.
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
