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Keratoderma hereditarium mutilans with ichthyosis

Synonym(s) Camisa disease
Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase
Loricrin keratoderma
Vohwinkel syndrome - ichthyosis
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Childhood
  • Q82.8
MeSH -
MedDRA -


Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma (see this term), characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis (see this term) and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.

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Practical genetics
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