Jain Nilam, Khopkar Uday
Department of Dermatology, Seth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India.
Int J Trichology. 2010 Jan;2(1):56-9. doi: 10.4103/0974-7753.66918.
Monilethrix is a heritable hair shaft defect characterized by localized or diffuse alopecia resulting from hair fragility over friction areas, predominantly the temporal and occipital regions, and follicular keratosis over the occipital region. However, it lacks macroscopic features that enable easy and rapid diagnosis in medical practice. Hair shaft microscopy is the basis for diagnosing monilethrix. We present a report of two Indian male siblings aged 24 and 21, who presented with thinning and hair loss from the scalp in male pattern distribution and multiple skin-colored follicular papules over the nape of the neck and bilateral forearms since childhood. Trichoscopy of scalp hair revealed characteristic uniform elliptical nodes and intermittent constrictions along with variation in hair shaft diameter, presence of few vellus hair and yellow dots, suggesting a diagnosis of monilethrix with early-onset androgenetic alopecia. Dermoscopy of the papules revealed multiple stubs of broken hair arising from them with a similar beaded appearance, suggesting a diagnosis of monilethrix. The diagnosis of monilethrix was confirmed with light microscopy and hair clipping. This report highlights the patterned distribution of hair loss in monilethrix probably due to the early unmasking of androgenetic alopecia and the use of trichoscopy as the diagnostic modality.
念珠状发是一种遗传性毛干缺陷，其特征为摩擦部位（主要是颞部和枕部）因毛发脆弱而出现局限性或弥漫性脱发，以及枕部出现毛囊角化病。然而，它缺乏在医学实践中便于快速诊断的宏观特征。毛发显微镜检查是诊断念珠状发的基础。我们报告了两名印度男性兄弟，年龄分别为24岁和21岁，自童年起就出现头皮男性型分布的变薄和脱发，以及颈部和双侧前臂出现多个肤色毛囊丘疹。头皮毛发的毛囊镜检查显示出特征性的均匀椭圆形结节和间歇性缩窄，同时伴有毛干直径变化、少量毳毛和黄色小点，提示诊断为念珠状发合并早发性雄激素性脱发。丘疹的皮肤镜检查显示从丘疹中长出多个断发残端，外观类似串珠状，提示诊断为念珠状发。通过光学显微镜和毛发剪取术确诊为念珠状发。本报告强调了念珠状发中脱发的模式分布可能是由于雄激素性脱发的早期显露，以及使用毛囊镜作为诊断方法。
