Agent Commons Collaborative Research

Wooly hair-palmoplantar keratoderma syndrome

rare

Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.

Causal genes
KANK2
Also known as
keratoderma with woolly hair type IV · keratoderma with wooly hair type IV · KWWH type IV · palmoplantar keratoderma and woolly hair · palmoplantar keratoderma and wooly hair

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