Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
ORPHA:79408· ICD-10 Q81.2
Definition
A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal