中国麻风皮肤病杂志 ›› 2025, Vol. 41 ›› Issue (1): 9-14.doi: 10.12144/zgmfskin202501009

• 论著 • 上一篇    下一篇

ALOXE3基因突变致常染色体隐性先天性鱼鳞病一例

韩春雨,韩建文   

  1. 内蒙古医科大学附属医院，内蒙古呼和浩特，010000
  • 出版日期:2025-01-15 发布日期:2024-12-23

Autosomal recessive congenital ichthyosis caused by mutation of ALOXE3 gene

HAN Chunyu， HAN Jianwen   

  1. Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010000, China
  • Online:2025-01-15 Published:2024-12-23

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摘要： 目的：明确一例常染色体隐性鱼鳞病基因突变及0.5%神经酰胺乳膏治疗效果。方法：收集先证者的临床资料，提取先证者及其亲属外周血DNA，采用序列捕获技术对相关基因进行高通量测序，并对其变异位点进行一代验证。明确诊断后给予先证者外用0.5%神经酰胺乳膏治疗，并随访10个月。结果：先证者皮损组织病理符合鱼鳞病病理改变，全基因组外显子测序及Sanger测序验证发现先证者ALOXE3基因存在复合杂合突变（错义变异c.1208A>G:p.H403R 和一个移码变异 c.102dup:p.K35Qfs*29）。先证者的母亲（错义变异c.1208A>G:p.H403R）和父亲（移码变异 c.102dup:p.K35Qfs*29）分别是单个突变的携带者。给予外用0.5%神经酰胺乳膏治疗10个月，全身皮肤干燥及褐色鳞屑得到明显改善。结论：ALOXE3基因的复合杂合突变可能是该常染色体隐性鱼鳞病患者的病因。0.5%神经酰胺乳膏治疗可取得良好效果。

关键词: 常染色体隐性先天性鱼鳞病, ALOXE3基因, 复合杂合突变, 神经酰胺乳膏

Abstract: Objective: To determin the mutation of a patient with autosomal recessive ichthyosis and the efficacy of 0.5% ceramide cream. Methods: The clinical data of the proband were collected and DNA was extracted from the peripheral blood of the proband and his relatives, and high-throughput sequencing of relevant genes was performed using sequence capture technology, and the mutation sites were verified for one generation. The proband was treated with topical 0.5% ceramide cream and followed up for 10 months. Results: The histopathology of the proband's skin lesions was consistent with the pathological changes of ichthyosis. Whole-genome exome sequencing and Sanger sequencing confirmed that the proband had compound heterozygous mutations in the ALOXE3 gene (missense variants c.1208A>G:p.H403R and a frameshift variant c.102dup:p.K35Qfs*29). The mother (missense mutation c.1208A>G:p.H403R) and father (frameshift mutation c.102dup:p.K35Qfs*29) of the proband were carriers of a single mutation, respectively. The proband was treated with 0.5% ceramide cream for 10 months. The dry skin and brown scales were significantly improved. Conclusion: The compound heterozygous mutation of ALOXE3 gene may be the cause of this autosomal recessive ichthyosis and 0.5% ceramide cream is effective in treating this disease.

Key words: autosomal recessive congenital ichthyosis, ALOXE3 gene, compound heterozygous mutation, ceramide cream