Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate

• Published in: The American journal of dermatopathology
• Main Authors: Haskoloğlu, Şule, Öztürk, Gökcan, Deveci Demirbaş, Nazlı, Akal, Can, İslamoğlu, Candan, Baskın, Kübra, Heper, Aylin, Erdeve, Ömer, Ceylaner, Serdar, Doğu, Figen, İkincioğulları, Aydan
• Format: Journal Article
• Language: English
• Published: United States 01.07.2024
• ISSN: 1533-0311
• DOI: 10.1097/DAD.0000000000002714

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 immunodeficiency due to skin sores that started at the age of 1 month and a history of 3 siblings who died with similar sores, who was diagnosed with JEB-Herlitz after detecting a homozygous LAMC2 gene mutation in WES analysis. Microscopic evaluation of hematoxylin and eosin-stained sections showed vesicle formation with subepidermal separation, which is accompanied by striking neutrophil and eosinophil leukocyte infiltration both in the vesicle and papillary dermis (eosinophil-rich inflammatory infiltrate). Such a histopathological finding has been rarely reported in this condition.