Keratoderma hereditarium mutilans with ichthyosis

Orpha code: 79395OMIM code: 604117

Definition

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

Disease data
Classification

Disease

Synonyms
Camisa disease
Choroba Camisa
Keratodermia - zapalenie skóry w formie rybiej łuski - podwyższony poziom glukuronidazy
Keratodermia lorikrynowa
Zespół Vohwinkela - rybia łuska
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
Loricrin keratoderma
Vohwinkel syndrome with ichthyosis
ORPHA code
79395
OMIM code
604117
ICD10 code
Q82.8
ICD11 code
-

No additional description.

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