Palmoplantar keratoderma-spastic paralysis syndrome

Orpha code: 2201OMIM code: 148360

Definition

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
Classification

Disease

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

No additional description.

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