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Keratoderma hereditarium mutilans with ichthyosis

ORPHA79395
Synonym(s) Camisa disease
Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase
Loricrin keratoderma
Vohwinkel syndrome - ichthyosis
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10
  • Q82.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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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Detailed information

Practical genetics
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