Carvajal-Huerta syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi M.B,B.S [2]
Overview
Carvajal-Huerta syndrome (also known as "Striate palmoplantar keratoderma with woolly hair and cardiomyopathy"[1] and "Striate palmoplantar keratoderma with woolly hair and left ventricular dilated cardiomyopathy,"[2]) is a cutaneous condition inherited in an autosomal recessive fashion, and due to a defect in desmoplakin.[1] 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.[2]:513 The skin disease presents as a striate palmoplantar keratoderma with some nonvolar involvement, particularly at sites of pressure or abrasion.[2]:513