Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal

Definition:

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.

References:

[1]. Karthik Tallapaka, et al. Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. Am J Med Genet A. 2018 Apr;176(4):1006-1010. [Content Brief]

[2]. Pietro Parma, et al. R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet. 2006 Nov;38(11):1304-9. [Content Brief]

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