Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 Mutation.
Pediatr Dermatol
; 39(2): 264-267, 2022 Mar.
Article
em En
| MEDLINE
| ID: mdl-35178765
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Epidermólise Bolhosa Juncional
Limite:
Child
/
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Estados Unidos