中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (3): 238-240.DOI: 10.19538/j.ek2023030616

• 病例报告 • 上一篇    

以皮肤异位骨化为首发症状的假性甲状旁腺功能减退症1例报告

  

  1. 中山大学附属第一医院，广东  广州  510080
  • 出版日期:2023-03-06 发布日期:2023-03-29
  • 通讯作者: 李燕虹，电子信箱：lyanh@mail.sysu.edu.cn
  • 基金资助:
    广东省科技计划项目（2010B031600230）；广东省医学科研基金（A2021105）

Pseudohypoparathyroidis with heterotopic ossification of skin as first symptom: One case report

  1. The First Affiliated Hospital，Sun Yat-Sen University，Guangzhou  510080，China
  • Online:2023-03-06 Published:2023-03-29

摘要： 文章报告了1例以皮肤异位骨化为首发症状的假性甲状旁腺功能减退症（pseudohypoparathyroidism，PHP）的临床与基因型关系，并进行了文献复习。该例患儿以皮肤硬结起病，病理活检提示皮肤异位骨化，GNAS1基因检测示外显子编码区杂合致病突变：c.140-2A>G，突变源于母亲。认为PHP可以异位骨化为首发症状，该病例丰富了此类罕见病的数据。

关键词: 假性甲状旁腺功能减退症, 异位骨化, Albright遗传性骨营养不良, GNAS基因

Abstract: To report a case of the pseudohypoparathyroidism with the initial manifestation of subcutaneous heterotopic ossification and to explore the clinical characteristics and to investigate the correlation between clinical phenotypes and genotypes.The boy was admitted due to subcutaneous hard nodules.The dermal biopsy showed the subcutaneous heterotopic ossification. GNAS1 analysis revealed a heterozygous mutation: c.140-2A>G, inherited from his mother. PHP Ia can be diagnosed according to heterotopic ossification.This case enriches the data on this rare disease. 

Key words: pseudohypoparathyroidis, heterotopic ossification, albright hereditary osteodystrophy, GNAS