Article
Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate.
The American Journal of dermatopathology - 1 Jul 2024
Haskoloğlu Şule, Öztürk Gökcan, Deveci Demirbaş Nazlı, Akal Can, İslamoğlu Candan, Baskın Kübra, Heper Aylin, Erdeve Ömer, Ceylaner Serdar, Doğu Figen, İkincioğulları Aydan
Abstract excerpt
ABSTRACT: Junctional epidermolysis bullosa (JEB) is a rare, incurable, devastating, and mostly fatal congenital genetic disorder characterized by painful blistering of the skin and mucous membranes in response to minor trauma or pressure. JEB is classified roughly into 2 subtypes: JEB-Herlitz is caused by mutations on genes encoding laminin-332. The authors present a patient consulted with a suspicion of primary...
Topics
- Humans
- Epidermolysis Bullosa, Junctional
- Eosinophils
- Homozygote
- Mutation
- Laminin
- Male
- Female
- Phenotype
- Genetic Predisposition to Disease
- Infant