Palmoplantar keratoderma-spastic paralysis syndrome
Synonyms: Palmoplantar hyperkeratosis-spastic paralysis syndrome | Powell-Venencie-Gordon syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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