干燥-拉尔森综合征(SLS)是一种罕见的常染色体隐性神经皮肤疾病,全球发病率为每100,000人中0.4人。它的特点是先天性鱼鳞病的三联征,痉挛型双瘫或四肢瘫痪,和智力迟钝。在这里,我们报告了一名患有SLS的2岁男性儿童,哮喘,和复发性肺炎。一项分子遗传学研究证实了SLS,该研究揭示了ALDH3A2基因中的缺失突变。ALDH3A2基因突变导致微粒体酶脂肪醛脱氢酶的功能障碍和白三烯B4的代谢和积累受损,白三烯B4是发展过敏性疾病的关键分子和促炎介质。尤其是哮喘。据报道,SLS患者中白三烯B4水平升高。据我们所知,这是SLS与哮喘和复发性肺炎相关的首次报道.总之,儿科医生应了解并评估SLS患者的哮喘和过敏性疾病.
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma. An increased level of leukotriene B4 has been reported in SLS patients. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders.