A hereditary autosomal recessive disorder characterized by epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy. Woolly hair is present at birth; palmoplantar keratoderma and other keratotic signs appear around the first year of life. Cardiac abnormalities may be detected by electrocardiograph in asymptomatic patients and include dilation of the left ventricle leading to CONGESTIVE HEART FAILURE and death. Mutations in the DSP gene have been identified. OMIM: 605676
Also Known As:
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma; Carvajal syndrome; DCWHK; Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair