Palmoplantar keratoderma-spastic paralysis syndrome

Orpha code: 2201OMIM code: 148360

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Palmoplantar hyperkeratosis-spastic paralysis syndrome
Hiperkeratoza dłoni i stóp-zespół porażenia spastycznego
Zespół Powella, Venencie i Gordona
Powell-Venencie-Gordon syndrome
Kod ORPHA
2201
Kod OMIM
148360
Kod ICD10
Q82.8
Kod ICD11
-

No additional description.

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