Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.
Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.
复制标题
全身性萎缩性良性大疱性表皮松解症。
作者：
M. Jonkman;M. D. de Jong;K. Heeres;P. Steijlen;K. Owaribe;W. Küster;M. Meurer;T. Gedde;A. Sonnenberg;L. Bruckner
背景
泛发性萎缩性良性大疱性表皮病（GABEB）是一种非致死性交界性大疱性表皮病，临床特征为出生后全身性水疱、萎缩性愈合和儿童期发病的不完全性普遍萎缩性脱发。最近，我们发现了缺陷的180 kd大疱性类天疱疮抗原（BP 180）和BP 180信使RNA的量减少与GABEB患者。然而，目前尚不清楚GABEB是否总是由BP 180缺乏引起的。
结果
我们检查了18例非致死性交界性大疱性表皮病患者，来自无关的家庭，这些人中的9个GABEB的临床特征。从患者中获得的临床正常皮肤标本用抗BP 180和层粘连蛋白-5的单克隆抗体进行免疫荧光染色。BP 180表位在8例患者中不表达，所有患者均具有GABEB的典型临床特征。在9例GABEB患者中，1例患者的BP 180水平足够，但层粘连蛋白-5水平降低。在9例无萎缩性脱发的交界性大疱性表皮病患者中，1例患者层粘连蛋白-5水平不表达，而在其他患者中，两种抗原均正常表达。
结论
并非所有GABEB患者都缺乏BP 180，因为一些GABEB患者仅表现出层粘连蛋白-5表达的降低。皮肤中的BP 180缺乏似乎总是导致GABEB。免疫荧光分析使用单克隆抗体对BP 180（和层粘连蛋白-5）可能允许早期亚型，这是预后意义，在儿童出生的交界性大疱性表皮。
BACKGROUND
Generalized atrophic benign epidermolysis bullosa (GABEB) is a form of nonlethal junctional epidermolysis bullosa, clinically characterized by generalized blistering after birth, atrophic healing, and incomplete universal atrophic alopecia with onset in childhood. Recently, we discovered a deficiency of the 180-kd bullous pemphigoid antigen (BP180) and a reduced amount of BP180 messenger RNA in three patients with GABEB. It is not yet clear, however, whether GABEB is invariably caused by BP180 deficiency.
RESULTS
We examined 18 patients with nonlethal junctional epidermolysis bullosa from unrelated families; nine of these individuals presented with the clinical characteristics of GABEB. Specimens of clinically normal skin obtained from the patients were stained by immunofluorescence with monoclonal antibodies to BP180 and laminin-5. The BP180 epitopes were not expressed in eight patients, all of whom were sharing the typical clinical features of GABEB. In one of the nine patients with GABEB, the BP180 level was sufficient, but the laminin-5 level was reduced. Among the nine patients with junctional epidermolysis bullosa without atrophic alopecia, laminin-5 level was not expressed in one patient, while in the other patients both antigens were normally expressed.
CONCLUSIONS
Not all patients with GABEB are deficient in BP180, since some individuals with GABEB only exhibit reduction of the laminin-5 expression. The BP180 deficiency in the skin invariably seems to result in GABEB. Immunofluorescence analysis using monoclonal antibodies against BP180 (and laminin-5) may allow early subtyping, which is of prognostic significance, in children born with junctional epidermolysis bullosa.
由于广泛性萎缩性良性大疱性表皮松解症中编码 β 3 链 (LAMB3) 的基因突变，导致层粘连蛋白 5 表达发生改变。
DOI：
10.1111/1523-1747.ep12605904
发表时间：
1995
期刊：
The Journal of investigative dermatology
影响因子：
--
作者：
McGrath,JA;Pulkkinen,L;Christiano,AM;Leigh,IM;Eady,RA;Uitto,J
通讯作者：
Uitto,J
19-DEJ-1，一种半桥粒锚定丝复合物相关的单克隆抗体。
影响因子：
--
作者：
Fine,JD;Horiguchi,Y;Couchman,JR
通讯作者：
Couchman,JR
影响因子：
6.5
作者：
GIUDICE, GJ;EMERY, DJ;DIAZ, LA
通讯作者：
DIAZ, LA