Search for a rare disease
Other search option(s)
Keratoderma hereditarium mutilans with ichthyosis
Disease 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.
ORPHA:79395
Classification level: Disorder- Synonym(s):
- 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: Neonatal, Infancy
- ICD-10: Q82.8
- OMIM: 604117
- UMLS: C1858805
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Professionals
- Summary information
- Polski (2017, pdf)
- Emergency guidelines
- Français (2018, pdf)
- Clinical practice guidelines
- Français (2021)
- Practical genetics
- English (2013, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.