Carvajal syndrome

info · Skin

A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.

Signs and symptoms

Fragile skin
Acantholysis
Abnormal blistering of the skin
Palmoplantar keratoderma
Woolly hair
Dilated cardiomyopathy
Alopecia
Sparse eyebrow
Failure to thrive
Palmoplantar hyperkeratosis

Also known as: DCWHK; dilated cardiomyopathy with woolly hair and keratoderma; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair