Keratoderma hereditarium mutilans

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Synonyms: Mutilating keratoderma of Vohwinkel | Mutilating keratoderma plus deafness | Mutilating keratoderma plus hearing loss | PPK mutilans and deafness | PPK mutilans and hearing loss | Vohwinkel syndrome

Keratoderma hereditarium mutilans is a rare diffuse mutilating hereditary palmoplantar keratoderma disorder characterized by severe honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers feet elbows and knees. Alopecia onychogryphosis nail dystrophy or clubbing spastic paraplegia and myopathy may also be associated.

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 Data version May 2024

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