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临床皮肤科杂志2025年54卷第10期JClinDermatol,October2025,Vol.54,No.10以多发咖啡斑合并漏斗胸表现的Legius 综合征1例及基因突变分析581论著张洁，左亚刚中国医学科学院北京协和医学院、北京协和医院皮肤科，北京100730[摘要］目的：探讨以多发咖啡斑合并漏斗胸表现的Legius综合征患儿的临床表现及基因突变分析。方法：回顾性分析1例因自幼全身多发褐色斑片、近期发现胸骨塌陷就诊的10岁女性患儿的临床资料。结果：本例患儿躯干和四肢散在多发大小不一的褐色斑片(> 6枚),最大者10 cm×5cm,胸骨和肋骨向内向后凹陷。胸部计算机断层扫描(CT)提示漏斗胸。基因检测示SPRED1基因c.800G>A的嵌合突变,患儿父母均未检出相关基因突变。结论：以多发咖啡斑合并漏斗胸表现的Legius 综合征临床少见，提示临床上应早期完善家系基因检测以明确诊断。[关键词】Legius综合征；SPRED1基因；咖啡斑；漏斗胸[中图分类号] R596.1doi:10.16761/j.cnki.1000-4963.2025.10.003Legius syndrome with multiple café-au-lait macules complicated with pectus excavatum:a case report and gene mutation analysisZHANG Jie, ZUO YagangDepartment of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking UnionMedical College, Beijing 100730, China[Abstract] Objective: To investigate the clinical manifestation and gene mutation of Legius syndrome with multiple café-au-lait macules and pectus excavatum. Method: A retrospective analysis was performed on a 10-year-old girl who presentedwith multiple café-au-lait macules all over the body since childhood and a recent finding of sternal collapse. Results: Thepatient exhibited multiple cafe-au-lait macules of different sizes on the limbs and trunk, with a maximum size of 10cm ×5cm. The sternum and ribs were sunken inward and backward. The chest computed tomography suggested pectus excavatum.Genetic testing showed a chimeric mutation in c.800G>A in the SPREDI gene, and no related mutations were detected in herparents. Conclusion: Legius syndrome with multiple café-au-lait macules complicated with pectus excavatum is rare. Genetictesting should be completed for early diagnosis.[Key words] Legius syndrome; SPREDI gene; café-au-lait macules; pectus excavatum[文献标识码]A [文章编号]】1000-4963(2025)10-0581-03[J Clin Dermatol, 2025, 54(10) :581-583]1对象与方法1.1对象患儿女,10岁。因躯干和四肢多发褐色斑片10年，于2023年11月13日于北京协和医院皮肤科门诊就诊。患者出生即发现躯干和四肢多发褐色斑片，大小不一,随年龄增长稍有增多,无明显自觉症状。近期发现患儿胸骨塌陷,外院进行胸部计算机断层扫描（com-puted tomography,CT)提示漏斗胸；胸壁畸形评估指标，即Haller指数约3.5(正常均值约2.5,其中轻度漏斗胸< 3.2,中度3.2~3.5,重度> 3.5）。既往史无特殊。患儿收稿日期：2024-02-18；修回日期：2024-04-17通信作者：左亚刚,Email;zuoyagang@263.net父母非近亲结婚，家族中无类似疾病患者。1.2方法回顾性分析患儿的临床资料，包括临床表现、实验室及辅助检查、诊断等。2结果2.1 临床表现体格检查：各系统检查均正常，全身浅表淋巴结未触及增大,未见特殊面容,发育正常。皮肤科检查：躯干和四肢散在分布大小不一的褐色斑片,边界清晰,呈椭圆或不规则形状；最小皮损位于腹部，呈米粒大，最大皮损位于右大腿外侧,约10cm×5cm(图1);胸骨和肋骨向内向后凹陷。全身皮肤未见肿瘤。2.2实验室及辅助检查