PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement

Orpha code: 79401OMIM code: 131950

Definicja

A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.

Disease data
Klasyfikacja

Disease

Synonimy
PLEC-related intermediate EBS without extracutaneous involvement
PLEC-related intermediate EBS without extracutaneous involvement
Kod ORPHA
79401
Kod OMIM
131950
Kod ICD10
Q81.0
Kod ICD11
-

No additional description.

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