Ectodermal dysplasia-skin fragility syndrome
ORPHA:158668· ICD-10 Q81.0
Definition
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal