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PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
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Disease 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.
ORPHA:79401
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Article for general public
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Research activities on this disease
- Research project(s) (45)
- Clinical trial(s) (8)
- Biobank(s) (8)
- Registry(ies) (25)
- Network of experts (4)
Newborn screening
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