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目的:报告1例I型毛发-鼻-指(趾)综合征(TRPS)患者并对其骨骼X线,毛发扫描电镜特点及基因进行分析。方法:用电子数显游标卡尺在患者手足长骨X线片上测量其长度;取患者头发于光镜及电镜下观察,并与正常人进行对比;取患者外周血提取DNA进行测序。结果:患者手足长骨缩短,颈椎后凸畸形,毛发在光镜下变细变短,发梢外层结构缺失,电镜下可见毛小皮严重受损,毛干裂开等改变。基因检测结果发现患者TRPS1基因存在新的缺失突变。结论:该研究首次精确测量了I型TRPS患者的手足长骨的长度,颈椎后凸畸形在国内鲜见报道,并发现了TRPS1基因新的突变。
OBJECTIVE: To report a case of type I hair-nose-toe syndrome (TRPS) and to analyze its characteristics of bone X-ray and hair scanning electron microscopy and its genes. Methods: The length of patient’s hand, foot and long bone radiographs were measured by electronic digital vernier calipers. The hair of the patients was observed under light microscope and electron microscope and compared with that of normal people. DNA was extracted from peripheral blood of patients and sequenced. Results: The long bones of the hand and foot were shortened, the kyphosis of the cervical spine was kyphosis, the hair became thinner and thinner under the light microscope, the outer structure of the hair tip was absent, and the microstructure of the hair was severely damaged by electron microscopy. Gene test results found that there is a new deletion mutation in TRPS1 gene. CONCLUSIONS: This study, for the first time, accurately measures the length of long bones in hand and foot in patients with type I TRPS. Knee kyphosis is rarely reported in China and a novel mutation in the TRPS1 gene is found.