Başaran E, Yilmaz E, Alpsoy E, Yilmaz G G
Department of Dermatology, Akdeniz University Medical Faculty, Antalya, Turkey.
Br J Dermatol. 1995 Oct;133(4):636-8. doi: 10.1111/j.1365-2133.1995.tb02720.x.
We report three members of a family with congenital hypotrichosis, characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. They also developed a progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. As far as we are aware, this combination of clinical features has not been described previously.
我们报告了一个患有先天性毛发稀少症的家族中的三名成员，其特征为结节性脆发症和裂发症、皮肤干燥、毛发角化病和全白甲。他们还出现了一种进行性移行性掌跖角化病，以及膝盖、肘部和肛周区域的角化过度性病变。据我们所知，这种临床特征的组合此前尚未有过描述。
