Cardiomyopathy dilated with woolly hair and keratoderma [Supplementary Concept]
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
Date introduced: August 25, 2010
MeSH Unique ID: C535581
Heading Mapped to:
Entry Terms:
- DCWHK
- Carvajal syndrome
- Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy
- Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
- Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma