ORPHA:79395
Keratoderma hereditarium mutilans with ichthyosis
Also called Camisa disease, Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome, Loricrin keratoderma, Vohwinkel syndrome with ichthyosis
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:79395 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Palmoplantar hyperkeratosis
- Generalized ichthyosis
- Digital constriction ring
- Hyperkeratosis
- Palmoplantar keratoderma
- Parakeratosis