ORPHA:317
Erythrokeratodermia variabilis
Also called EKV, Erythrokeratodermia variabilis, Mendes da Costa type
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal dominant, Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:317 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Microcephaly
- Hyperkeratosis
- Skin rash
- Cutaneous photosensitivity
- Hypermelanotic macule
- Weight loss