PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
What is PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement?
A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.
Other condition names
- EBS-O
Inheritance type
Autosomal dominant
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Infancy
- Neonatal
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