Kawakami T, Saito R, Fujikawa Y, Kazama H, Shinomiya N, Yamaguchi K, Yamaguchi Y, Aoki T, Kobayashi T
Second Department of Dermatology, Toho University School of Medicine, Tokyo, Japan.
Dermatology. 1999;198(1):93-6. doi: 10.1159/000018075.
Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by ichthyosis, spastic diplegia and mental retardation. Biochemical studies have pinpointed the pathogenesis resulting in the deficiency of the fatty aldehyde dehydrogenase (FALDH) component of the fatty alcohol NAD+ oxidoreductase complex. Histochemical analysis revealed a reduction in alcohol dehydrogenase (AD) activity in the skin. SLS patients have been categorized biochemically into two groups: complete and incomplete reduction according to the degree of FALDH deficiency. Our patients demonstrated incomplete clinical features, including a 1/3 reduction in FALDH activity, and decreased AD activity in the ichthyotic lesion. The phenotypical differences between our cases and classic SLS are probably due to the partial FALDH deficiency.
舍格伦-拉尔松综合征（SLS）是一种罕见的常染色体隐性疾病，其特征为鱼鳞病、痉挛性双瘫和智力发育迟缓。生化研究已明确了导致脂肪醇NAD⁺氧化还原酶复合物中脂肪醛脱氢酶（FALDH）成分缺乏的发病机制。组织化学分析显示皮肤中乙醇脱氢酶（AD）活性降低。根据FALDH缺乏程度，SLS患者在生化上被分为两组：完全缺乏和不完全缺乏。我们的患者表现出不完全的临床特征，包括FALDH活性降低三分之一，以及鱼鳞病皮损中AD活性降低。我们的病例与典型SLS之间的表型差异可能是由于FALDH部分缺乏所致。
