一名5个月大男孩发生第9外显子突变的进行性骨化性纤维发育不良：病例报告
Progressive osseous heteroplasia in a five-month-old boy with a mutation in exon 9 of : a case report.
作者信息
Jiang Li, Li Zheng-Xiu
机构信息
Department of Dermatology, The First Affiliated Hospital of China Medical University Shenyang, Liaoning, China.
出版信息
Am J Transl Res. 2024 Nov 15;16(11):6835-6840. doi: 10.62347/WVMV7029. eCollection 2024.
Abstract
Progressive osseous heteroplasia (POH) is an ultrarare hereditary disease that begins with cutaneous ossification, and progressive heterotopic ossification involves subcutaneous and deep connective tissues. We reported a case of POH in a five-month-old boy with clinical, pathological, and genetic features of POH. Most POH cases are caused by GNAS inactivating mutations, and the mutation of GNAS is also found in some other related heterotopic ossification conditions. A discussion of the clinical and laboratory features of these disorders is made in our case report.
摘要
进行性骨化性纤维发育不良（POH）是一种极为罕见的遗传性疾病，始于皮肤骨化，且进行性异位骨化累及皮下和深部结缔组织。我们报告了一例五个月大男孩的POH病例，具有POH的临床、病理和遗传特征。大多数POH病例由GNAS失活突变引起，在其他一些相关的异位骨化病症中也发现了GNAS突变。我们的病例报告对这些病症的临床和实验室特征进行了讨论。
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