Keratosis palmoplantaris with mutations in Desmoplakin

Last Updated: 2019-08-27

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

ICD11: -

Carvajal- Herta 1998

Carvajal syndrome 

Palmoplantar Keratosis with Wool Hair and Left Ventricular Cardiomyopathy 

Palmoplantar keratosis, which is very similar to Naxos syndrome. In keratosis palmoplantaris with mutations in Desmoplakin, left ventricular cardiomyopathy is to be expected, not right ventricular as in Naxos syndrome.

Extremely rare

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

Wool hair (curly or curly, which exists from birth).

Palmoplantare hyperkeratosis (mostly striary). Naxos syndrome shows diffuse hyperkeratosis.

Left heart cardiomyopathy, which can lead to cardiac death.

Anamnesis.

Clinic.

Genetic examination.

Cardiological consil.

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