Bjrnstad综合征

Bjrnstad syndrome:a case report

报告一例Bjrnstad综合征。患儿女,11岁。出生后即有头发扭曲,听力障碍,并进行性加重。显微镜下头发部分变扁平,有多处狭窄。头皮组织病理检查:毛囊内毛发断面长轴偏离毛囊纵轴线,显示毛发在毛囊内已扭曲。部分毛囊纤维性毛根鞘增厚,毛囊及其周围有少量淋巴细胞浸润。扫描电镜下发干扭曲,致发干表面出现纵嵴和凹沟,部分毛小皮细胞卷曲、脱落,血清微量元素铜值水平正常。

An 11-year-old girl with pili torti and sensorineural hearing loss is reported here. Light microscopy demonstrated the hair shaft was partly flattened and variable numbers of twists along the shafts of hairs. Histopathologieal examination revealed that hairs twisted on their own axis and periadnexal fibrous tissue sheath. Some of hair follicles became thickening, and lymphocytes infihration was around hair follicles. Scanning electron microscopy showed the grooves and ridges on the hair shaft surface. Some cuticle cell convoluted and excoriated because of hair twisted. Serum copper level was normal.