Keratosis palmoplantaris with mutations in desmoplakin

Entity described by

Carvajal- Herta 1998

Synonym (s)

Carvajal syndrome

Palmoplantar keratosis with woolly hair and left ventricular cardiomyopathy

Definition

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

Etiopathogenesis

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

Clinical features

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.

Diagnosis

Anamnesis.

Clinical.

Genetic examination.

Cardiology consult.

Therapy

Keratolytic treatment.

Consequential regreasing.

Cardiac care with e.g. implantation of a pacemaker.

References

Srinivas SM, Kumar P, Basavaraja GV. Carvajal Syndrome. Int J Trichology. 2016 Jan-Mar;8(1):53-5.
Stöllberger C, Vujic I, Wollmann E, Freudenthaler J, Finsterer J. Carvajal syndrome with oligodontia, hypoacusis, recurrent infections, and noncompaction. Int J Cardiol. 2016 Jan 15;203:825-7.
Molho-Pessach V, Sheffer S, Siam R, Tams S, Siam I, Awwad R, Babay S, Golender J, Simanovsky N, Ramot Y, Zlotogorski A. Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. Pediatr Dermatol. 2015 Sep-Oct;32(5):641-6.