Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 Mutation.

Autor: Ahmed F; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Section of Pediatric Dermatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Young LR; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Perman MJ; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Section of Pediatric Dermatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2022 Mar; Vol. 39 (2), pp. 264-267. Date of Electronic Publication: 2022 Feb 17.
DOI: 10.1111/pde.14942
Abstrakt: 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 oral and nasal cavities, fingers, toes, and within mucous membranes such as the upper respiratory tract. Lung pathology associated with JEB is less commonly reported; we describe three children with LAMB3 pathogenic variants with extensive lung injury contributing to decline in clinical status and likely leading to their demise early in life.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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