一例Netherton综合征患者皮肤和毛发的电镜观察

Electron microscopic observation of skin and hair on a case of Netherton syndrome

目的:电镜观察Netherton综合征皮肤和毛发的超微结构改变。方法:对一例21岁Netherton综合征男性患者的皮肤及头发毛干进行透射电镜及扫描电镜观察。结果:透射电镜观察显示,表皮角质层角质细胞分离,角质细胞间隙见板层小体、电子致密颗粒及变性桥粒,角质细胞内见多量脂滴。扫描电镜观察显示毛干呈竹节样改变伴有毛小皮断裂和剥脱。结论:表皮角质层细胞间的板层小体及电子致密颗粒是Netherton综合征特征性的超微结构。电镜观察对Netherton综合征的早期诊断有意义。

Objective： To observe the ultrastructural changes of skin and hair on a case of Netherton syndrome. Methods：The skin biopsy and hair shaft specimens were obtained from skin and hair of case of a 21-year-old male patient with Netherton syndrome and observed by TEM and SEM respectively. Results： TEM observation showed that the epidermis stratum comeum were characterized by the appearance of lumellar bodies, electron-dense granules, and degenerating desmosomes in the intercellular spaces with separation of comeocytes. The intracellular lipid droplets were seen. SEM observation revealed bamboo-like hair with broken cuticles of hair-shaft. Conclusion： The lamellar bodies and electron-dense granules in the intercellular spaces of stratum comeum are characteristic ultrastructural changes of the skin of Netherton syndrome. The ultrastruetural observation is useful for the early diagnosis of Netherton syndrome.