/wooly hair-palmoplantar keratoderma syndrome

wooly hair-palmoplantar keratoderma syndrome

Rare Disease

MONDO:0014492

Also Known As

KWWH type IVkeratoderma with woolly hair type IVkeratoderma with wooly hair type IVwoolly hair-palmoplantar hyperkeratosis syndromewooly hair-palmoplantar hyperkeratosis syndromePPKWHpalmoplantar keratoderma and woolly hairpalmoplantar keratoderma and wooly hair

Definition

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.