Hadj-Rabia Smail, Schneider Holm, Navarro Elena, Klein Ophir, Kirby Neil, Huttner Kenneth, Wolf Lior, Orin Melanie, Wohlfart Sigrun, Bodemer Christine, Grange Dorothy K
Department of Dermatology, Reference center for genodermatoses and rare skin diseases (MAGEC), INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
Competence Center for Ectodermal Dysplasias, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.
Am J Med Genet A. 2017 Sep;173(9):2408-2414. doi: 10.1002/ajmg.a.38343. Epub 2017 Jul 10.
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder that affects ectodermal structures and presents with a characteristic facial appearance. The ability of automated facial recognition technology to detect the phenotype from images was assessed . In Phase 1 of this study we examined if the age of male patients affected the technology's recognition. In Phase 2 we investigated how well the technology discriminated affected males cases from female carriers and from individuals with other ectodermal dysplasia syndromes. The system detected XLHED to be the most likely diagnosis in all genetically confirmed affected male patients of all ages, and in 55% of heterozygous females. Interestingly, patients with other ED syndromes were also detected by the XLHED-targeted analysis, consistent with shared developmental features. Thus the automated facial recognition system represents a promising non-invasive technology to screen patients at all ages for a possible diagnosis of ectodermal dysplasia, with greatest sensitivity and specificity for males affected with XLHED.
X连锁少汗型外胚层发育不良（XLHED）是一种影响外胚层结构的遗传性疾病，具有特征性的面部外观。我们评估了自动面部识别技术从图像中检测该表型的能力。在本研究的第一阶段，我们研究了男性患者的年龄是否会影响该技术的识别。在第二阶段，我们调查了该技术区分受影响男性病例与女性携带者以及其他外胚层发育不良综合征患者的能力。该系统在所有经基因确诊的各年龄段受影响男性患者以及55%的杂合子女性中，检测出XLHED是最可能的诊断。有趣的是，针对XLHED的分析也检测出了患有其他外胚层发育不良综合征的患者，这与共同的发育特征一致。因此，自动面部识别系统是一种很有前景的非侵入性技术，可用于筛查各年龄段患者是否可能患有外胚层发育不良，对患有XLHED的男性具有最高的敏感性和特异性。
