毛发-鼻-指(趾)综合征病例分析并文献复习

目的:探讨毛发-鼻-指(趾)综合征(TRPS)的主要临床特征、骨骼X线表现及毛发超微结构特点,提高对该病的认识.方法:用刻度尺在X线片上测量患者手足长骨长度,分析患者手足骨正位片、鼻骨侧位片、脊柱正位片、骨盆正位片,以及髋关节与骶髂关节MRI图像.总结不同类型TRPS的临床特征及鉴别诊断要点.取患者头发于光镜及电镜下观...

Tricho-rhino-phalangeal syndrome--case analysis and literature review

Objective:To explore the main clinical features of tricho-rhino-phalangeal syndrome(TRPS)and analyze the bone X-ray and hair ultrastructure to help the doctors improve the understanding of the disease.Methods:The length of the hand and foot were measured with a scale on the long bone X-ray film,and the hand and foot bone anteroposterior film,the nasal bone lateral film,the spinal anteroposterior film,pelvic anteroposterior film,MRI images of the hip and sacroiliac joints were analyzed.The clinical features and differential diagnosis of different types of TRPS were summarized.The hair of patients and normal people were observed by light microscope and electron microscope.Results:Long bones of hands and feet shortened,bilateral hip joint changed.Electron and light microscopy showed that the hair lesions were severe,the hair became thinner and shorter under the light microscope,and the outer structure of the hair tip was missing.Under the electron microscope,the folds,erosion and hair shaft breakage of the small skin cells were observed.Conclusions:The study accurately measured the length of the long bones of the hands and feet in patients with TRPS.It was reported that patients with TRPS typeⅠhad multiple malformations,such as scoliosis,bilateral hip joint Perthes-like femoral head deformation,and ankle joint sclerosis.