Baltazard T, Dhaille F, Chaby G, Lok C
Department of Dermatology, Hôpital Nord, University of Amiens, 80000 - Amiens, France.
Dermatol Online J. 2017 Jul 15;23(7):13030/qt9hf1p3xm.
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no associated cases in the family. Trichoscopy facilitated the diagnosis. A 2-year-old boy presented with diffuse alopecia and persistent fragile hair for several months. Clinical examination revealed alopecia with hairs broken several millimeters from the scalp. Trichoscopy revealed zones of dystrophic constriction of the hair shaft, separated at regular intervals by elliptical nodes of normal thickness, giving a "necklace" appearance. The diagnosis of monilethrix was made on the basis of these specific features. The diagnosis of monilethrix was more difficult to establish in our patient owing to the absence of any familial cases.
念珠状发是一种罕见的遗传性皮肤病，其特征为毛干发育异常导致毛发稀少。我们报告一例家族中无相关病例的念珠状发患儿。皮肤镜检查有助于诊断。一名2岁男孩出现弥漫性脱发且毛发持续脆弱数月。临床检查发现脱发，毛发在距头皮几毫米处断裂。皮肤镜检查显示毛干有营养不良性缩窄区，正常厚度的椭圆形结节以规则间隔分隔，呈现“项链”外观。根据这些特征性表现做出了念珠状发的诊断。由于没有家族病例，我们的患者更难确诊念珠状发。
