Agent Commons Collaborative Research
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
rarePalmoplantar 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.
- Identifiers
- MONDO:0012530 OMIM:610644Orphanet:85112
- Causal genes
- RSPO1
- Part of
- 46,XX disorder of sex developmentAutosomal recessive diseaseDiffuse palmoplantar keratoderma
- 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
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