Rodríguez Díaz E, Fernández Blasco G, Martín Pascual A, Armijo M
Department of Dermatology, University Hospital, Universidad de Salamanca, Spain.
Dermatology. 1995;191(2):139-41. doi: 10.1159/000246532.
We report on a female aged 13 years, whose scalp hair began to disappear at the age of 9 years, leaving only sparse wispy hairs in the parietal-occipital region. Eyelashes, eyebrows and body hair were unaffected. There were no signs of ectodermal dysplasia on the skin, nails, teeth and eyes nor other congenital abnormalities. The family pedigree showed 15 relatives similarly affected according to an autosomal dominant mode of transmission. Clinical, genetic, histological and ultrastructural aspects led to a diagnosis of hereditary hypotrichosis simplex of the scalp (Toribio-Quiñones type).
我们报告了一名13岁女性，其头皮毛发在9岁时开始脱落，仅在顶枕部区域留下稀疏的细毛。睫毛、眉毛和身体毛发未受影响。皮肤、指甲、牙齿和眼睛均无外胚层发育不良的迹象，也无其他先天性异常。家族谱系显示，根据常染色体显性遗传模式，有15名亲属有类似症状。临床、遗传、组织学和超微结构方面的表现导致诊断为头皮单纯遗传性少毛症（托里维奥-基尼奥内斯型）。
