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进行性骨化性纤维发育不良:一例罕见病例报告。

Progressive Osseous Heteroplasia: A Rare Case Report.

作者信息

Sahu Kananbala, Rout Arpita N, Mohapatra Liza, Mohanty Prasenjeet

机构信息

Department of Skin and V.D., S.C.B.M.C.H., Cuttack, Odisha, India.

出版信息

Indian Dermatol Online J. 2020 Jul 13;11(4):604-606. doi: 10.4103/idoj.IDOJ_502_19. eCollection 2020 Jul-Aug.

Abstract

Progressive osseous heteroplasia (POH) is a rare genetic condition of progressive extraskeletal bone formation. POH is clinically suspected by cutaneous ossification, usually presenting in early life, that involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. We report a case of POH in a 3-year-old child with multiple nontender subcutaneous nodules which, on radiology and histopathology, showed intracutaneous bone formation. Although there is no specific and effective treatment, knowledge about this entity is necessary for early detection and genetic counseling of parents.

摘要

进行性骨化性纤维发育不良(POH)是一种罕见的遗传性疾病,其特征为进行性的骨骼外骨形成。POH临床上通过皮肤骨化来怀疑,通常在生命早期出现,首先累及皮下组织,随后累及深层结缔组织,包括肌肉和筋膜。我们报告了一例3岁儿童的POH病例,该患儿有多个无压痛的皮下结节,经放射学和组织病理学检查显示为皮内骨形成。虽然目前尚无特异性有效的治疗方法,但了解这种疾病对于早期诊断以及为家长提供遗传咨询是必要的。

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