新发GNAS基因突变致婴儿板层样皮肤骨瘤伴局限性脱发1例

doi:10.35541/cjd.20220781

中华皮肤科杂志 ›› 2025, Vol. 58 ›› Issue (2): 175-177.doi: 10.35541/cjd.20220781

新发GNAS基因突变致婴儿板层样皮肤骨瘤伴局限性脱发1例

吴邓婷¹ 何瑞² 杨思燕¹ 张嫦娥¹ 马琳² 张斌²

¹郑州大学附属儿童医院河南省儿童医院郑州儿童医院皮肤科，郑州 450018；²国家儿童医学中心首都医科大学附属北京儿童医院皮肤科，北京 100045

收稿日期:2022-11-07 修回日期:2023-11-27 发布日期:2025-02-07
通讯作者: 张斌 E-mail:dr.binzhang@163.com
基金资助:
北京市自然科学基金（7222058）；河南省儿科疾病临床医学研究中心开放课题（YJZX202209）；国家区域医疗中心开放课题（NRMC0101）；国家重点研发计划项目（2023YFC2508200）

A case of infantile plate-like osteoma cutis complicated by focal alopecia caused by a novel mutation in the GNAS gene

Wu Dengting¹, He Rui², Yang Siyan¹, Zhang Chang′e¹, Ma Lin², Zhang Bin²

¹Department of Dermatology, Children′s Hospital Affiliated of Zhengzhou University, Henan Children′s Hospital, Zhengzhou Children′s Hospital, Zhengzhou 450018, China; ²Department of Dermatology, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China

Received:2022-11-07 Revised:2023-11-27 Published:2025-02-07
Contact: Zhang Bin E-mail:dr.binzhang@163.com
Supported by:
Beijing Municipal Natural Science Foundation （7222058）; The Open Project of Henan Clinical Research Center of Childhood Diseases （YJZX202209）; National Regional Medical Center Opening Project （NRMC0101）; National Key Research and Development Program of China（2023YFC2508200）

摘要/Abstract

摘要： 患儿男，4个月15天。因出生时即有左前胸及头皮质硬皮损伴脱发就诊，头皮皮损因表面头发稀疏而发现。患儿系第1胎第1产，36+1W早产、剖宫产，无宫内发育迟缓，无窒息史；出生时无外伤及传染病史；父母体健，非近亲结婚，家族中无类似病史……

吴邓婷何瑞杨思燕张嫦娥马琳张斌. 新发GNAS基因突变致婴儿板层样皮肤骨瘤伴局限性脱发1例[J]. 中华皮肤科杂志, 2025,58(2):175-177. doi:10.35541/cjd.20220781

Wu Dengting, He Rui, Yang Siyan, Zhang Chang′e, Ma Lin, Zhang Bin. A case of infantile plate-like osteoma cutis complicated by focal alopecia caused by a novel mutation in the GNAS gene[J]. Chinese Journal of Dermatology, 2025, 58(2): 175-177.doi:10.35541/cjd.20220781

参考文献 9

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新发GNAS基因突变致婴儿板层样皮肤骨瘤伴局限性脱发1例

A case of infantile plate-like osteoma cutis complicated by focal alopecia caused by a novel mutation in the GNAS gene

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