Petrin J H, Meckler K A, Sybert V P
Department of Medicine, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle 98105, USA.
Pediatr Dermatol. 1998 Jan-Feb;15(1):31-4. doi: 10.1046/j.1525-1470.1998.1998015031.x.
Two brothers demonstrated a severe variant of trichothiodystrophy. Both had brittle hair, developmental delay with severe failure to thrive, recurrent infections, cataracts, and angioendotheliomas of the liver at autopsy. The elder died at 12 weeks, the younger at 6 months. The younger had the typical appearance of banded hair on polarizing microscopy and a low cystine content measured by ion exchange chromatography. The history, clinical findings, and basic defects of trichothiodystrophy are discussed.
两兄弟表现出毛发硫营养不良的一种严重变体。两人均有脆发、发育迟缓伴严重生长发育不良、反复感染、白内障，尸检发现肝脏有血管内皮瘤。哥哥在12周时死亡，弟弟在6个月时死亡。弟弟在偏光显微镜下有典型的发带外观，通过离子交换色谱法测得胱氨酸含量低。本文讨论了毛发硫营养不良的病史、临床发现和基本缺陷。
