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Keratoderma with woolly hair type II
Other Resources UpToDate PubMed

Keratoderma with woolly hair type II

Contributors: Monther Nassar, Jourdan Brandon MD, Eric Ingerowski MD, FAAP, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Carvajal syndrome (keratoderma with woolly hair type 2) is a genetically inherited syndrome characterized by left ventricular dilated cardiomyopathy, woolly hair, and striated or focal nonepidermolytic palmoplantar keratoderma (PPK).

It is caused by a mutation in the DSP gene on chromosome 6, which encodes for desmoplakin, a desmosomal protein found in cardiac tissue and the skin. The mutated protein has a truncated C-terminal domain that is responsible for intermediate filament binding. The DSP mutation is inherited in an autosomal recessive manner, but autosomal dominant forms have also been identified.

Carvajal syndrome is exceedingly rare, with only a handful of documented cases in Ecuador, India, Saudi Arabia, and Turkey.

Woolly hair presents as tightly coiled, unusually frizzy, difficult-to-comb hair diffusely on the scalp that is apparent at birth. Palmoplantar hyperkeratosis begins in the first year of life. The keratoderma is usually striate or focal and keratotic plaques may be seen over elbows and knees, as well as in the flexures. A left-sided dilated ventricular cardiomyopathy typically results in cardiac failure, and affected individuals begin to develop symptoms and signs in early childhood. Sudden cardiac death may occur from ventricular arrhythmias, but progressive cardiac failure is the most common cardiac presentation. Most patients will die before reaching adulthood. Affected individuals with the autosomal dominant form may also manifest oligodontia.

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin
Q84.1 – Congenital morphological disturbances of hair, not elsewhere classified

SNOMEDCT:
719835006 – Keratoderma with woolly hair type II

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Last Reviewed:04/10/2022
Last Updated:04/26/2022
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Keratoderma with woolly hair type II
A medical illustration showing key findings of Keratoderma with woolly hair type II (Hair)
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