National Institutes of Health, National Human Genome Research Institute, Bethesda, Md, USA.
Expert Rev Endocrinol Metab. 2022 Nov;17(6):467-474. doi: 10.1080/17446651.2022.2144229. Epub 2022 Nov 16.
The use of facial recognition technology has diversified the diagnostic toolbelt for clinicians and researchers for the accurate diagnoses of patients with rare and challenging disorders. Specific identifiers in patient images can be grouped using artificial intelligence to allow the recognition of diseases and syndromes with similar features. Lysosomal storage disorders are rare, and some have prominent and unique features that may be used to train the accuracy of facial recognition software algorithms. Noteworthy features of lysosomal storage disorders (LSDs) include facial features such as prominent brows, wide noses, thickened lips, mouth, and chin, resulting in coarse and rounded facial features.
We evaluated and report the prevalence of facial phenotypes in patients with different LSDs, noting two current examples when artificial intelligence strategies have been utilized to identify distinctive facies.
Specific LSDs, including Gaucher disease, Mucolipidosis IV and Fabry disease have recently been distinguished using facial recognition software. Additional lysosomal disorders LSDs lysosomal storage disorders with unique and distinguishable facial features also merit evaluation using this technology. These tools may ultimately aid in the identification of specific LSDs and shorten the diagnostic odyssey for patients with these rare and under-recognized disorders.
人脸识别技术的使用为临床医生和研究人员的诊断工具带来了多样化，可用于准确诊断罕见且具有挑战性的疾病患者。可以使用人工智能对患者图像中的特定标识符进行分组，从而识别具有相似特征的疾病和综合征。溶酶体贮积症是罕见的，其中一些具有明显而独特的特征，可用于训练人脸识别软件算法的准确性。溶酶体贮积症（LSDs）的显著特征包括突出的眉毛、宽鼻子、增厚的嘴唇、嘴巴和下巴等面部特征，导致面部特征粗糙且圆润。
我们评估并报告了不同 LSD 患者的面部表型的流行情况，并注意到当人工智能策略被用于识别独特面容时的两个当前示例。
使用人脸识别软件可以区分特定的 LSD，包括戈谢病、黏脂贮积症 IV 和法布雷病。其他溶酶体贮积症 LSD 也具有独特且可区分的面部特征，值得使用该技术进行评估。这些工具最终可能有助于识别特定的 LSD，并缩短患有这些罕见且认识不足的疾病的患者的诊断过程。
