Giehl K A, Ferguson D J P, Dean D, Chuang Y H, Allen J, Berker D A R D, Tosti A, Dawber R P R, Wojnarowska F
Department of Dermatology, Ludwig-Maximilian-University, 80337 Munich, Germany.
Br J Dermatol. 2004 Apr;150(4):722-7. doi: 10.1111/j.0007-0963.2004.05837.x.
Pili annulati is a rare autosomal dominant inherited hair shaft abnormality in which clinical examination reveals alternating light and dark bands leading to a shiny appearance of the hair. The clinically light bands are the abnormal areas due to cavities within the cortex. The pathogenesis remains unknown.
To investigate the expression of the basement membrane zone (BMZ) components in pili annulati hair follicles of the scalp.
Transmission electron microscopy (TEM) was carried out on scalp sections of six individuals with pili annulati and six controls. Longitudinal sections of scalp tissues from four individuals with pili annulati and six normal controls were studied by immunohistochemistry with a panel of monoclonal antibodies to the following BMZ components: alpha(6)beta(4) integrin, laminin 5, LH39 antigen, laminin 1, collagen IV and collagen VII.
Using TEM, pili annulati scalp specimens exhibited a reduplicated lamina densa in the region of the root bulb in comparison with the single thin electron-dense band in controls. Using immunohistochemistry, there was a wavy BMZ in pili annulati follicles with antibodies to components of the lamina lucida, lamina densa and anchoring fibrils, whereas the BMZ in control hair follicles was as a smooth linear band. The expression of the hemidesmosome-associated alpha(6)beta(4) integrin was linear in both pili annulati and control hair follicles.
Our results suggest that the genetic defect may be a mutation in proteins involved in signalling and regulation of formation and degradation of the lamina densa and sublamina densa region resulting in abnormal assembly or remodelling of the BMZ.
环状发是一种罕见的常染色体显性遗传性毛干异常，临床检查显示毛发有明暗交替的条纹，使其外观有光泽。临床上的亮带是由于皮质内有空腔而形成的异常区域。其发病机制尚不清楚。
研究头皮环状发毛囊中基底膜带（BMZ）成分的表达。
对6例环状发患者和6例对照者的头皮切片进行透射电子显微镜（TEM）检查。用一组针对以下BMZ成分的单克隆抗体，通过免疫组织化学方法研究了4例环状发患者和6例正常对照者头皮组织的纵切片：α(6)β(4)整合素、层粘连蛋白5、LH39抗原、层粘连蛋白1、IV型胶原和VII型胶原。
使用TEM，与对照组中单一的薄电子致密带相比，环状发头皮标本在毛球区域显示有重复的致密板。使用免疫组织化学方法，环状发毛囊中与透明板、致密板和锚定纤维成分相关的抗体显示基底膜带呈波浪状，而对照毛囊中的基底膜带呈平滑的线性带。半桥粒相关的α(6)β(4)整合素在环状发和对照毛囊中的表达均呈线性。
我们的结果表明，遗传缺陷可能是参与致密板和致密板下区域形成和降解的信号传导及调节的蛋白质发生突变，导致基底膜带组装异常或重塑。
