摘要目的:研究1例自我改善型火棉胶鱼鳞病成人阶段的临床特征和基因变异情况。方法:2023年4月河南省人民医院皮肤科收治1例疑诊自我改善型火棉胶鱼鳞病成人患者，收集该患者及其父母临床资料，并采集外周血，提取全血DNA。应用全外显子组测序技术筛选患者基因变异位点，Sanger测序验证。通过致病性分析软件评估检出变异位点的有害性。结果:患者女，54岁，面颈部潮红，躯干及四肢皮肤轻度干燥，双手背皮肤如羊皮纸样伴短指。基因测序显示，患者ALOX12B基因存在c.406_408del（p.E136del）和c.769_801del（p.H257_Q267del）两个非重复区框内缺失变异，分别来自其父母。生物信息学分析两位点均为有害致病变异位点。结论:本研究发现自我改善型火棉胶鱼鳞病ALOX12B基因2个非重复区框内缺失变异c.406_408del和c.769_801del，可能为该患者临床表型的病因，变异位点c.769_801del既往文献未见报道。

abstractsObjective:To investigate clinical characteristics and genetic variations in a case of self-improving collodion ichthyosis in the adult stage.Methods:An adult patient with clinically suspected self-improving collodion ichthyosis was collected from the Department of Dermatology, Henan Provincial People′s Hospital in April 2023. Clinical data were collected from the patient and her parents. Peripheral blood samples were obtained from them, and whole blood DNA was extracted. Whole-exome sequencing was performed to screen genetic variation sites, which were then verified by Sanger sequencing. The deleteriousness of the identified variants was assessed using pathogenicity analysis software.Results:The 54-year-old female patient presented with facial and neck flushing, mild dry skin on the trunk and limbs, sheepskin-like skin of the dorsal hand, and short fingers. Genetic testing identified two in-frame deletion mutations c.406_408del (p.E136del) and c.769_801del (p.H257_Q267del) in the non-repetitive region of the ALOX12B gene in the patient, which were inherited from her father and mother respectively. Bioinformatics analysis revealed that both genetic variations were deleterious pathogenic mutations.Conclusions:Two in-frame deletion mutations c.406_408del (p.E136del) and c.769_801del (p.H257_Q267del) were identified in the non-repetitive region of the ALOX12B gene in the patient with self-improving collodion ichthyosis, which may contribute to the clinical phenotype of the patient. The mutation c.769_801del had not been reported in literature.