Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Synonyms: Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised 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 aetiology is unknown.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome?
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