palmoplantar keratoderma and woolly hair

A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homo

A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2.

Signs and symptoms

• Sparse body hair
• Sparse scalp hair
• Sparse eyelashes
• Palmoplantar keratoderma
• Sparse eyebrow
• Leukonychia
• Amniotic constriction ring
• Woolly hair

Also known as: PPKWH; keratoderma with woolly hair type IV; woolly hair-palmoplantar keratoderma syndrome type 4