%0 Case Reports
%T Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate.
%A Haskoloğlu Ş
%A Öztürk G
%A Deveci Demirbaş N
%A Akal C
%A İslamoğlu C
%A Baskın K
%A Heper A
%A Erdeve Ö
%A Ceylaner S
%A Doğu F
%A İkincioğulları A
%J Am J Dermatopathol
%V 46
%N 7
%D 2024 Jul 1
%M 38648026
%F 1.319
%R 10.1097/DAD.0000000000002714
%X <B>UNASSIGNED: </B>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.