PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement

Orpha code: 79401OMIM code: 131950

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.

Disease data
Classification

Disease

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

No additional description.

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