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A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa
Journal of the American Academy of Dermatology ( IF 13.8 ) Pub Date : 2021-10-08 , DOI: 10.1016/j.jaad.2021.09.065
Gregory Scott Phillips 1 , Amy Huang 1 , Bret D Augsburger 2 , Laura Kaplan 1 , Kathleen Peoples 3 , Anna L Bruckner 4 , Phuong Khuu 5 , Jean Y Tang 5 , Irene Lara-Corrales 6 , Elena Pope 6 , Karen Wiss 7 , Laura E Levin 8 , Kimberly D Morel 9 , Kristen P Hook 10 , Amy S Paller 11 , Lawrence F Eichenfield 12 , Catherine C McCuaig 13 , Julie Powell 13 , Leslie Castelo-Soccio 14 , Moise L Levy 15 , Harper N Price 16 , Lawrence A Schachner 17 , John C Browning 18 , Marla Jahnke 19 , Tor Shwayder 19 , Susan Bayliss 20 , Anne W Lucky 2 , Sharon A Glick 1
Affiliation  

Background

Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, and genetic counseling.

Objective

To describe diagnostic testing patterns and assess diagnostic concordance of transmission electron microscopy (TEM), immunofluorescence mapping (IFM), and genetic analysis for EB.

Methods

A retrospective cohort included patients enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2004, to July 8, 2019. Tests concluding the same EB type (EB simplex, junctional EB, dominant dystrophic EB, and recessive dystrophic EB) were considered concordant; those concluding different EB types were considered discordant; and those with nonspecific/nondefinitive results were equivocal.

Results

A total of 970 diagnostic tests were conducted from 1984 to 2018 in 771 patients. Genetic analyses were performed chronologically later than IFM or TEM (P < .001). The likelihood of undergoing genetic analysis was greater for junctional EB and recessive dystrophic EB, and the same for dominant dystrophic EB as compared with EB simplex. TEM results in 163 patients were equivocal (55%), concordant (42%), and discordant (3%). IFM results in 185 patients were equivocal (54%), concordant (42%), and discordant (4%).

Limitations

Retrospective design.

Conclusions

Diagnostic testing has shifted in favor of genetic analysis. TEM and IFM frequently offer equivocal findings when compared to the specificity afforded by genetic analysis.



中文翻译:

北美大疱性表皮松解症患者队列中诊断检测的回顾性分析

背景

大疱性表皮松解症 (EB) 的准确诊断对预后、管理和遗传咨询具有重要意义。

客观的

描述诊断测试模式并评估透射电子显微镜 (TEM)、免疫荧光图 (IFM) 和 EB 基因分析的诊断一致性。

方法

回顾性队列包括从 2004 年 1 月 1 日到 2019 年 7 月 8 日在大疱性表皮松解症临床特征和结果数据库中登记的患者。得出相同 EB 类型(单纯性 EB、交界性 EB、显性营养不良 EB 和隐性营养不良 EB)的测试是被认为是一致的;那些得出不同 EB 类型的结论被认为是不一致的;那些具有非特异性/非确定性结果的人是模棱两可的。

结果

从 1984 年到 2018 年,共对 771 名患者进行了 970 次诊断测试。遗传分析的时间顺序晚于 IFM 或 TEM ( P  < .001)。交界性 EB 和隐性营养不良 EB 进行遗传分析的可能性更大,与单纯性 EB 相比,显性营养不良 EB 的可能性更大。163 名患者的 TEM 结果模棱两可 (55%)、一致 (42%) 和不一致 (3%)。185 名患者的 IFM 结果模棱两可 (54%)、一致 (42%) 和不一致 (4%)。

限制

回顾性设计。

结论

诊断测试已转向有利于基因分析。与遗传分析提供的特异性相比,TEM 和 IFM 经常提供模棱两可的发现。

更新日期:2021-10-08
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