Keratoderma with woolly hair type II
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.
Q82.8 – Other specified congenital malformations of skin
Q84.1 – Congenital morphological disturbances of hair, not elsewhere classified
719835006 – Keratoderma with woolly hair type II
Differential Diagnosis & Pitfalls