Gyure K A, Kurczynski T W, Gunning W, French B N
Department of Pediatrics, Medical College of Ohio, Toledo 43699-0008.
Pediatr Neurol. 1992 Nov-Dec;8(6):469-72. doi: 10.1016/0887-8994(92)90012-n.
Two siblings are reported with an autosomal recessive syndrome characterized by hair and skin abnormalities, hypoplastic nails, generalized hypotonia, absent reflexes, and progressive neurologic deterioration. Although this disorder shares clinical features with an ectodermal dysplasia syndrome with neurodegenerative changes, no specific neuropathologic findings were present. Instead, trichorrhexis invaginata was found in some hair shafts. Hair analysis may be helpful in classifying clinically confusing neurologic conditions.
据报道，有两名兄弟姐妹患有一种常染色体隐性综合征，其特征为毛发和皮肤异常、指甲发育不全、全身肌张力减退、反射消失以及进行性神经功能恶化。尽管这种疾病与伴有神经退行性改变的外胚层发育不良综合征有共同的临床特征，但未发现特定的神经病理学表现。相反，在一些毛发轴中发现了套叠性脆发症。毛发分析可能有助于对临床上令人困惑的神经疾病进行分类。
