Woolly hair-palmoplantar keratoderma syndrome

Orpha code: 420686OMIM code: 616099

Definicja

Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly 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 woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.

Disease data
Klasyfikacja

Disease

Synonimy
KWWH type IV
KWWH typu IV
Rogowiec z włosami wełnistymi typu IV
Zespół włosów wełnistych i hiperkeratozy dłoniowo-podeszwowej
Keratoderma with woolly hair type IV
Woolly hair-palmoplantar hyperkeratosis syndrome
Kod ORPHA
420686
Kod OMIM
616099
Kod ICD10
Q82.8
Kod ICD11
-

No additional description.

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