Abstract：
UNASSIGNED: 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.
摘要：
■连接性大疱性表皮松解症（JEB）是一种罕见的，无法治愈，毁灭性的,主要是致命的先天性遗传疾病，其特征是由于轻微的创伤或压力而引起的皮肤和粘膜疼痛性起泡。JEB大致分为2种亚型：JEB-Herlitz是由编码层粘连蛋白332的基因突变引起的。作者提出了一名患者，怀疑由于皮肤溃疡而引起的原发性免疫缺陷，该患者始于1个月大，并且有3名兄弟姐妹死于类似溃疡的病史。在WES分析中检测到纯合LAMC2基因突变后被诊断为JEB-Herlitz。苏木精和曙红染色切片的显微镜评估显示囊泡形成与表皮下分离，在囊泡和乳头状真皮中伴有醒目的中性粒细胞和嗜酸性粒细胞白细胞浸润（富含嗜酸性粒细胞的炎性浸润）。在这种情况下很少报道这种组织病理学发现。
