PDF(Pubmed)
Abstract：
Pili torti is a rare condition characterized by the presence of the hair shaft, which is flattened at irregular intervals and twisted 180° along its long axis. It is a form of hair shaft disorder with increased fragility. The condition is classified into inherited and acquired. Inherited forms may be either isolated or associated with numerous genetic diseases or syndromes (e.g., Menkes disease, Björnstad syndrome, Netherton syndrome, and Bazex-Dupré-Christol syndrome). Moreover, pili torti may be a feature of various ectodermal dysplasias (such as Rapp-Hodgkin syndrome and Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome). Acquired pili torti was described in numerous forms of alopecia (e.g., lichen planopilaris, discoid lupus erythematosus, dissecting cellulitis, folliculitis decalvans, alopecia areata) as well as neoplastic and systemic diseases (such as cutaneous T-cell lymphoma, scalp metastasis of breast cancer, anorexia nervosa, malnutrition, cataracts, and chronic graft-vs.-host disease). The condition may also be induced by several drugs (epidermal growth factor receptor inhibitors, oral retinoids, sodium valproate, and carbamide perhydrate). The diagnosis of pili torti is based on trichoscopic or microscopic examination. As pili torti is a marker of numerous congenital and acquired disorders, in every case, the search for the signs of underlying conditions is recommended.
摘要：
Pilitorti是一种罕见的疾病，其特征是毛干的存在，它以不规则的间隔变平，并沿其长轴扭转180°。它是毛干紊乱的一种形式，脆性增加。该疾病分为遗传性和获得性。遗传形式可能是孤立的，也可能与许多遗传疾病或综合症有关(例如，Menkes疾病，Björnstad综合征,Netherton综合征,和Bazex-Dupré-Christol综合征）。此外，菌毛torti可能是各种外胚层发育不良（例如Rapp-Hodgkin综合征和前唇-外胚层缺损-唇腭裂综合征）的特征。以多种形式的脱发（例如，扁平苔藓,盘状红斑狼疮,解剖蜂窝织炎,毛囊炎Decalvans,斑秃）以及肿瘤和全身性疾病（例如皮肤T细胞淋巴瘤，乳腺癌头皮转移，神经性厌食症,营养不良,白内障,和慢性移植物-vs.-宿主病）。这种情况也可能由几种药物（表皮生长因子受体抑制剂，口服类维生素A,丙戊酸钠，和过氧化氢脲)。菌毛的诊断基于显微镜或显微镜检查。由于菌毛是许多先天性和获得性疾病的标志，在任何情况下,建议搜索潜在条件的迹象。
