Keratosis palmoplantaris with mutations in desmoplakin

Last Updated: 2023-07-07

Author(s): Anzengruber F., Navarini A.

ICD11: -

Carvajal- Herta 1998

Carvajal syndrome

Palmoplantar keratosis with woolly hair and left ventricular cardiomyopathy

Palmoplantar keratosis, which is very similar to Naxos syndrome. Unlike the latter, however, left ventricular, not right ventricular, cardiomyopathy is seen.

Autosomal recessive mutation of the desmoplakin gene. Autosomal dominant inheritances have also been published.

Wool hairs (curly or frizzy, which are present from birth)

Palmoplantar hyperkeratosis (usually striar)- diffuse hyperkeratosis is seen in Naxos syndrome.

Left heart cardiomyopathy, which can consequently lead to cardiac death.



Genetic examination.

Cardiology consult.

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