Article
Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 Mutation.
Pediatric dermatology - 1 Mar 2022
Ahmed Fahad, Young Lisa R, Perman Marissa J
Abstract excerpt
Junctional epidermolysis bullosa (JEB) is characterized by skin and mucous membrane fragility leading to easy blistering. Blistering may be the result of multiple genetic mutations, including the LAMB3 gene encoding a subunit of laminin 332, an important protein in the basement membrane zone. The clinical presentation of JEB includes blistering and granulation tissue forming anywhere on the skin including around...
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