Carvajal syndrome is a cutaneous condition, a form of ichthyosis

Ichthyosis

Ichthyosis is a heterogeneous family of at least 28, generalized, mostly genetic skin disorders. All types of ichthyosis have dry, thickened, scaly or flaky skin...

, inherited in an autosomal recessive fashion, and due to a defect in desmoplakin

Desmoplakin

Desmoplakin is a protein associated with desmosomes.Desmoplakin is a protein that in humans is encoded by the DSP gene. The C-terminus of desmoplakin binds with intermediate filaments. These are further sub divided to three homologous Plakin repeat domains . In the mid-region of desmoplakin, a...

. Striate palmoplantar keratoderma, woolly hair, and left ventricular dilated cardiomyopathy has been described in both autosomal dominant and autosomal recessive forms, but only the recessive forms have a clear association with dilated cardiomyopathy. The skin disease presents as a striate palmoplantar keratoderma

Palmoplantar keratoderma

Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soleAutosomal recessive and dominant, X-linked, and acquired forms have all been described.There are also acquired forms of the condition....

with some nonvolar involvement, particularly at sites of pressure or abrasion.