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Keratoderma hereditarium mutilans 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.
ORPHA:79395
Classification level: Disorder
- Camisa disease
- Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
- Loricrin keratoderma
- Vohwinkel syndrome with ichthyosis
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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- Research project(s) (46)
- Clinical trial(s) (1)
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- Registry(ies) (28)
- Network of experts (7)
Newborn screening