GNAS基因突变致Albright遗传性骨营养不良1例

doi:10.35541/cjd.20230218

中华皮肤科杂志 ›› 2024, e20230218.doi: 10.35541/cjd.20230218

GNAS基因突变致Albright遗传性骨营养不良1例

何伟¹ 潘超兰² 王雨蒙² 曹巧玉² 赵安琪² 王昕怡² 曾琴¹ 王树翠¹ 李明²

¹安徽理工大学医学院第一人民医院皮肤科，淮南 232001；²复旦大学附属儿科医院皮肤科，上海 201102

收稿日期:2023-04-19 修回日期:2024-06-21 发布日期:2024-11-12
通讯作者: 李明 E-mail:liming@fudan.edu.cn
基金资助:
国家自然科学基金（82073422、82273504）

A case of Albright′s hereditary osteodystrophy caused by a GNAS gene mutation

He Wei¹, Pan Chaolan², Wang Yumeng², Cao Qiaoyu², Zhao Anqi², Wang Xinyi², Zeng Qin¹, Wang Shucui¹, Li Ming²

¹Department of Dermatology, the First Hospital of Anhui University of Science & Technology, Huainan 232001, Anhui, China; ²Departement of Dermatology, Children′s Hospital of Fudan University, Shanghai 201102, China

Received:2023-04-19 Revised:2024-06-21 Published:2024-11-12
Contact: Li Ming E-mail:liming@fudan.edu.cn
Supported by:
National Natural Science Foundation of China（82073422、82273504）

摘要/Abstract

摘要： 先证者男，7个月，汉族。因腹部皮肤硬化6个月余于2022年7月25日就诊。患儿出生后1个月余，腹部出现指甲盖大小红色斑块，后扩展至左侧腹部腋前线，呈片状紫红色色素沉着，内含不规则隆起性米粒大小的丘疹斑块……

关键词: 遗传性骨营养不良, 皮肤骨化, GNAS1基因, 假型甲状旁腺功能减退, 假假型甲状旁腺功能减退

Key words: Hereditary osteodystrophy, Cutaneous ossification, GNAS1 gene, Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism

何伟潘超兰王雨蒙曹巧玉赵安琪王昕怡曾琴王树翠李明. GNAS基因突变致Albright遗传性骨营养不良1例[J]. 中华皮肤科杂志, 2024,e20230218. doi:10.35541/cjd.20230218

He Wei, Pan Chaolan, Wang Yumeng, Cao Qiaoyu, Zhao Anqi, Wang Xinyi, Zeng Qin, Wang Shucui, Li Ming. A case of Albright′s hereditary osteodystrophy caused by a GNAS gene mutation[J]. Chinese Journal of Dermatology,2024,e20230218. doi:10.35541/cjd.20230218

参考文献 8

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GNAS基因突变致Albright遗传性骨营养不良1例

A case of Albright′s hereditary osteodystrophy caused by a GNAS gene mutation

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