Keratoderma hereditarium mutilans with ichthyosis
Synonyms: Camisa disease | Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome | Loricrin keratoderma | Vohwinkel syndrome with ichthyosis
A rare diffuse mutilating hereditary palmoplantar keratoderma 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 http://www.orphadata.org. Data version April 2024
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Keratoderma hereditarium mutilans with ichthyosis?
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