Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Orpha code: 85112OMIM code: 610644

Definition

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.

Disease data
Classification

Disease

Synonyms
Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Hiperkeratoza dłoni i stóp - odwrócenie płci XX - predyspozycja do raka kolczystokomórkowego
ORPHA code
85112
OMIM code
610644
ICD10 code
Q56.0
ICD11 code
-

No additional description.

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