Hoffmann Aleksandra, Waśkiel-Burnat Anna, Żółkiewicz Jakub, Blicharz Leszek, Rakowska Adriana, Goldust Mohamad, Olszewska Małgorzata, Rudnicka Lidia
Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland.
Department of Dermatology, University Medical Center of the Johannes Gutenberg University, 55122 Mainz, Germany.
J Clin Med. 2021 Aug 30;10(17):3901. doi: 10.3390/jcm10173901.
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.
扭曲发是一种罕见病症，其特征是毛干存在，毛干在不规则间隔处变扁平并沿其长轴扭转180°。它是一种毛干疾病，毛发脆性增加。该病症分为遗传性和后天性。遗传性形式可能是孤立的，也可能与多种遗传性疾病或综合征相关（例如，门克斯病、比约恩斯塔德综合征、 Netherton综合征和巴泽克斯 - 迪普雷 - 克里斯托尔综合征）。此外，扭曲发可能是各种外胚层发育不良（如拉普 - 霍奇金综合征和睑缘粘连 - 外胚层缺陷 - 唇腭裂综合征）的一个特征。后天性扭曲发在多种脱发形式（例如扁平苔藓性毛囊角化病、盘状红斑狼疮、蜂窝织炎、脱发性毛囊炎、斑秃）以及肿瘤性和全身性疾病（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抗宿主病）中都有描述。该病症也可能由几种药物（表皮生长因子受体抑制剂、口服维甲酸、丙戊酸钠和过碳酰胺）诱发。扭曲发的诊断基于毛发镜或显微镜检查。由于扭曲发是众多先天性和后天性疾病的一个标志，因此在每种情况下，建议寻找潜在病症的迹象。
