Epidermolysis bullosa simplex with anodontia/hypodontia
ORPHA:2325· ICD-10 Q81.0
Definition
A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal