Severe lower limb cellulitis is best diagnosed by dermatologists and managed with shared care between primary and secondary care
Severe lower limb cellulitis is best diagnosed by dermatologists and managed with shared care between primary and secondary care
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DOI：
10.1111/j.1365-2133.2011.10275.x
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发表时间：
2011-06-01
影响因子：
10.3
通讯作者：
Garioch, J. J.
中科院分区：
文献类型：
--
作者：
Levell, N. J.;Wingfield, C. G.;Garioch, J. J.
晚发性交界性大疱性表皮病（JEB-lo）是一种罕见的疾病，其主要特征是从儿童时期开始的手足水疱。目的阐明JEB-lo.MethodsTwo患者与JEB-lo，一个兄弟和一个姐妹，检查了电子显微镜（EM），免疫荧光（IF）抗原定位和分子分析。最显著的变化是对XVII型胶原（Col 17）的单克隆抗体（mAb）的顶侧染色的损失，以及对Col 17，层粘连蛋白-332和VII型胶原的胞外域的mAb染色的分布范围扩大。编码Col 17的COL 17 A1的突变分析显示，在这两名患者中，新突变c.1992_1995delGGGT和已知突变c.3908G > A具有复合杂合性。c.1992_1995delGGGT缺失导致提前终止密码子和mRNA衰变，使患者在Col 17非胶原蛋白4结构域中出现错义突变c.3908G > A（p.R1303Q），从而导致功能性半合子。结论JEB lo是由Col 17 A1突变引起的常染色体隐性遗传病，EM和IF抗原图谱的细微异常是诊断的线索。
P>BackgroundJunctional epidermolysis bullosa of late onset (JEB-lo) is a rare disease characterized by blistering of primarily the hands and feet starting in childhood. The pathogenesis remains unclear.ObjectivesTo clarify the pathogenesis of JEB-lo.MethodsTwo patients with JEB-lo, a brother and a sister, were examined using electron microscopy (EM), immunofluorescence (IF) antigen mapping and molecular analysis.ResultsWe found subtle changes in IF antigen mapping and EM. The most remarkable changes were loss of the apical-lateral staining of monoclonal antibodies (mAbs) against type XVII collagen (Col17), and a broadened distribution of mAb staining against the ectodomain of Col17, laminin-332 and type VII collagen. Mutation analysis of COL17A1, encoding Col17, showed a compound heterozygosity for a novel mutation c.1992_1995delGGGT and the known mutation c.3908G > A in both patients. The deletion c.1992_1995delGGGT results in a premature termination codon and mRNA decay, leaving the patients functionally hemizygous for the missense mutation c.3908G > A (p.R1303Q) in the noncollagenous 4 domain of Col17.ConclusionsJEB-lo is an autosomal recessive disorder caused by mutations in COL17A1, and subtle aberrations in EM and IF antigen mapping are clues to diagnosis.