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Синдром долонно-підошовної кератодермїї-спастичного паралічу

ORPHA:2201· ICD-10 Q82.8· Palmoplantar keratoderma-spastic paralysis syndrome

Визначення(English summary)

A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
All ages