Term Name: | junctional epidermolysis bullosa Herlitz type |
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Synonyms: | epidermolysis bullosa letalis, Herlitz type epidermolysis bullosa junctionalis, Herlitz-Pearson-type epidermolysis bullosa, JEB-H, JEB-Herlitz type, junctional epidermolysis bullosa generalisata gravis, junctional epidermolysis bullosa, Herlitz-Pearson type |
Definition: | A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. |
Ontology: | Human Disease [DOID:0060737] ( DOID:0060737 ) |