DISEASE: Cardiomyopathy, dilated, with woolly hair and keratoderma
Cardiomyopathy, dilated, with woolly hair and keratoderma
Dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is a rare autosomal recessive genodermatosis caused by defective desmoplakin, an important desmosomal plaque protein. DCWHK is characterized by the presence of woolly or sparse hair from birth, fragile skin with blisters/erosions, with hyperkeratosis and epidermolytic keratoderma developing in early childhood. Cardiomyopathy may become apparent in the first decade of life, and early death due to heart failure has been reported.
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
EC21 Genetic defects of hair or hair growth
H00893 Cardiomyopathy, dilated, with woolly hair and keratoderma