Carney S, Mallory S B, Kibarian M A
Department of Medicine, Washington University School of Medicine, St. Louis, Missouri.
Pediatr Dermatol. 1993 Sep;10(3):289-91. doi: 10.1111/j.1525-1470.1993.tb00380.x.
Sjögren-Larsson syndrome is an inborn error of metabolism with its primary clinical manifestations being congenital ichthyosis, spastic hemiplegia or quadriplegia, and moderate to severe mental retardation. Definitive diagnosis can be made by measuring fatty aldehyde dehydrogenase activity in cultured skin fibroblasts. Treatment of dermatologic manifestations is best accomplished with topical emollients and frequent bathing or showering. Some evidence supports medium-chain triglyceride diets and oral retinoids. These modalities, however, remain controversial.
舍格伦-拉松综合征是一种先天性代谢紊乱疾病，其主要临床表现为先天性鱼鳞病、痉挛性偏瘫或四肢瘫，以及中度至重度智力迟钝。通过测量培养的皮肤成纤维细胞中的脂肪醛脱氢酶活性可做出明确诊断。皮肤表现的治疗最好使用外用润肤剂并经常洗澡或淋浴。一些证据支持中链甘油三酯饮食和口服维甲酸。然而，这些方法仍存在争议。
