PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
ORPHA:79401· ICD-10 Q81.0
Definition
A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal