SJOGREN-LARSSON SYNDROME
SJOGREN-LARSSON SYNDROME
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DOI：
10.1007/978-1-4614-0653-2_26
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发表时间：
2012-01-01
影响因子：
3
通讯作者：
Povoas Barsottini, Orlando Graziani
中科院分区：
文献类型：
--
作者：
Dutra, Livia Almeida;Braga-Neto, Pedro;Povoas Barsottini, Orlando Graziani
Sjogren-Larsson 综合征是一种罕见疾病，其特征是出现智力低下、痉挛性双瘫和鱼鳞病。 FALDH 基因的突变影响了脂肪酸的代谢并导致脂质的异常积累，从而证明大脑和皮肤的参与是合理的。角质层和髓磷脂中多层膜的正常形成受到损害。本章的目的是回顾该病的典型表现及其鉴别诊断。
Sjogren-Larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The involvement of brain and skin is justified by a mutation in FALDH gene that affects the metabolism of fatty acids and leads to abnormal accumulation of lipids. The normal formation of multilamellar membranes in the stratum comeum and myelin is impaired. The aim of this chapter is to review the classical manifestation of the disease and its differential diagnosis.