Rieubland Claudine, de Viragh Pierre A, Addor Marie-Claude
Service de Génétique Médicale, CHUV, rue Pierre Decker, 1011 Lausanne, Switzerland.
Eur J Med Genet. 2007 Jul-Aug;50(4):309-14. doi: 10.1016/j.ejmg.2007.03.002. Epub 2007 Apr 11.
Uncombable hair syndrome, also named "pili trianguli et canaliculi" or "cheveux incoiffables", is a rare structural anomaly of the hair shaft first reported in 1973. Both inherited and sporadic forms have been described, characterized by dry and frizzy scalp hair that is impossible to comb. Diagnosis is suspected clinically and confirmed by scanning electron microscopy. The condition is usually isolated, however, several physical abnormalities can be associated. We report the case of a 2(1/2) year old-girl presenting isolated uncombable hair syndrome suspected clinically and confirmed by scanning electron microscopy.
难梳理毛发综合征，也被称为“三角形和有沟毛发”或“无法梳理的头发”，是一种罕见的毛干结构异常，于1973年首次报道。已描述了遗传型和散发型，其特征为头皮毛发干燥且卷曲，无法梳理。临床怀疑诊断，并通过扫描电子显微镜确诊。该病症通常为孤立性，但也可能伴有一些身体异常。我们报告了一例2岁半女童的病例，临床怀疑为孤立性难梳理毛发综合征，并通过扫描电子显微镜确诊。
