Rizzo W B
Department of Pediatrics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298-0259.
Semin Dermatol. 1993 Sep;12(3):210-8.
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the presence of congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The ichthyosis is generalized in distribution, and histological features of the skin include hyperkeratosis, papillomatosis, acanthosis, and a mildly thickened granular layer. Electron microscopy shows lamellar membranous inclusions in the granular and cornified cells. SLS patients have impaired fatty alcohol oxidation caused by deficient activity of fatty aldehyde dehydrogenase, a component of the fatty alcohol:NAD+ oxidoreductase complex. This enzymatic defect provides a reliable means for diagnosing SLS patients and unaffected SLS carriers. Prenatal diagnosis of SLS can be accomplished by enzymatic studies of amniocytes and cultured chorionic villi cells, or by histological examination of a fetal skin biopsy. Although still unproven, fatty alcohol accumulation in patients is thought to be responsible for the cutaneous symptoms.
舍格伦-拉尔松综合征（SLS）是一种常染色体隐性疾病，其特征为先天性鱼鳞病、智力迟钝以及痉挛性双侧瘫或四肢瘫。鱼鳞病呈全身性分布，皮肤的组织学特征包括角化过度、乳头瘤样增生、棘层肥厚以及颗粒层轻度增厚。电子显微镜检查显示颗粒细胞和角质形成细胞中有板层状膜性包涵体。SLS患者因脂肪醛脱氢酶活性不足而导致脂肪醇氧化受损，脂肪醛脱氢酶是脂肪醇：NAD⁺氧化还原酶复合物的一个组成部分。这种酶缺陷为诊断SLS患者及未受影响的SLS携带者提供了一种可靠的方法。SLS的产前诊断可通过对羊水细胞和培养的绒毛膜绒毛细胞进行酶学研究，或通过对胎儿皮肤活检进行组织学检查来完成。尽管尚未得到证实，但患者体内脂肪醇的蓄积被认为是导致皮肤症状的原因。
