幼年性玻璃样变纤维瘤病1例及文献回顾

doi:10.12016/j.issn.2096-1456.2022.07.007

口腔疾病防治 ›› 2022, Vol. 30 ›› Issue (7): 505-510.DOI: 10.12016/j.issn.2096-1456.2022.07.007

幼年性玻璃样变纤维瘤病1例及文献回顾

夏亮¹^,²(), 乌丹旦¹^,², 陈阳¹^,²()

1.上海交通大学医学院附属第九人民医院口腔颅颌面科上海交通大学口腔医学院,上海（200011）
2.国家口腔医学中心国家口腔疾病临床医学研究中心上海市口腔医学重点实验室中国医学科学院口腔颌面再生医学创新单元,上海（200011）

收稿日期:2021-10-11 修回日期:2021-11-17 出版日期:2022-07-20 发布日期:2022-04-25
通讯作者: 陈阳
作者简介:夏亮,医师,博士在读,Email： anglexialiang@126.com
基金资助:
国家重点研发项目(2016YFC1000502);上海交通大学医学院附属第九人民医院医学研究培育基金项目(JYZZ114)

Juvenile hyaline fibromatosis: a case report and literatures review

XIA Liang¹^,²(), WU Dandan¹^,², CHEN Yang¹^,²()

1. Department of Oral and Cranio-maxillofacial Surgery, the Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
2. National Center of Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Chinese Academy of Medical Sciences Oral and Maxillofacial Regenerative Medicine Innovation Unit, Shanghai 200011, China

Received:2021-10-11 Revised:2021-11-17 Online:2022-07-20 Published:2022-04-25
Contact: CHEN Yang
Supported by:
National Key Research and Development Program of China(2016YFC1000502);Fundamental Research Program Funding of Ninth People's Hospital affiliated to Shanghai Jiao Tong University School of Medicine(JYZZ114)

摘要/Abstract

摘要：

目的探讨幼年性玻璃样变纤维瘤病的临床病理特点、影像学表现、遗传学模式及诊治。方法报道1例幼年性玻璃样变纤维瘤病的临床表现、影像学检查、组织病理学检查、遗传学改变,同时对以往文献进行回顾,重点讨论该疾病的临床诊断、治疗以及预后情况。结果幼年性玻璃样变纤维瘤病好发于婴幼儿及儿童,本例患者具有典型的临床和病理学表现,临床征状为枕后部肿块、皮肤及皮下结节、牙龈过度增生、关节挛缩和关节溶骨性病变,病理学病变特征为组织内单一的梭形细胞增殖并伴有大量无定形透明嗜酸性物质聚集。对手术切除后病变组织行基因检测,进一步明确ANTXR2基因突变,符合幼年性玻璃样变纤维瘤病的遗传学改变。对该患者术后6个月随访结果显示,牙龈及面部肿块切除后均无明显复发。该疾病的治疗除了手术外,还需结合康复性治疗和多学科联合对症支持治疗,才能取得较好的预后效果。结论幼年性玻璃样变纤维瘤病是一种罕见的非肿瘤性常染色体隐性遗传病,与ANTXR2基因突变相关,其临床表现为皮下结节、牙龈增生、关节挛缩和溶骨性破坏等;治疗需要多学科联合对症支持治疗。

关键词: 玻璃样变纤维瘤病, 幼年性, ANTXR2, 牙龈增生, 皮下结节, 关节挛缩, 溶骨性破坏, 手术切除, 多学科联合治疗, 病例报告

Abstract:

Objective To investigate the clinicopathological characteristics, imaging manifestations, genetic manifestations, diagnosis and treatment of juvenile hyaline fibromatosis. Methods A case of juvenile hyaline fibromatosis was reported, and the patient's clinical manifestations, imaging examinations, histopathological examinations, genetic changes and treatment were summarized and analyzed. Results Juvenile hyaloid fibromatosis is more common in infants and children. This patient had typical clinical and pathological manifestations, including posterior occipital masses, skin and subcutaneous nodules, gum hyperplasia, joint contractures, and joint osteolytic lesions. The histopathological lesions were characterized by the proliferation of spindle cells in the tissue accompanied by a large amount of amorphous transparent matrix. Genetic testing was performed to confirm an ANTXR2 gene mutation, consistent with the known genetic changes of juvenile hyaline fibromatosis. The 6-month follow-up of the patient showed that there was no obvious recurrence after resection of the gum and facial mass. In addition to surgery, the treatment of this disease requires multidisciplinary symptomatic treatment combined with rehabilitation and supportive treatment to achieve a better prognostic effect. Conclusion Juvenile hyaline fibromatosis is a rare nonneoplastic autosomal recessive genetic disease. Mutations in the ANTXR2 gene lead to disorders of collagen synthesis and metabolism in the tissues and further cause subcutaneous nodules, gingival hyperplasia, joint contractures and bone dissolution.

Key words: hyaline fibromatosis, juvenile, ANTXR2, gingival hyperplasia, subcutaneous nodules, joint contracture, osteolytic destruction, surgical resection, multidisciplinary combination therapy, case report

中图分类号:

夏亮, 乌丹旦, 陈阳. 幼年性玻璃样变纤维瘤病1例及文献回顾[J]. 口腔疾病防治, 2022, 30(7): 505-510.

XIA Liang, WU Dandan, CHEN Yang. Juvenile hyaline fibromatosis: a case report and literatures review[J]. Journal of Prevention and Treatment for Stomatological Diseases, 2022, 30(7): 505-510.

图/表 5

图1 幼年性玻璃样变纤维瘤病患儿初诊情况

Figure 1 Initial diagnosis of a child with juvenile hyaline fibromatosis a: scar and mass recurrence after occipital scalp surgery (red arrow); b: there are multiple subcutaneous nodules (red arrows) under the wing of the nose, inside the mouth corners, and submental areas on both sides (red arrows), and gingival hyperplasia almost covers the incisors (yellow arrows); c: finger joint contracture with dyskinesia (green arrow); d: elbow and wrist joint swelling with dyskinesia (green arrow); e: knee joint contracture means it cannot be flexed or extended (green arrow)

图2 幼年性玻璃样变纤维瘤病患儿颌面部CT扫描

Figure 2 Maxillofacial CT scan of a child with juvenile hyaline fibromatosis a: three-dimensional CT reconstruction of the maxillofacial region; b-d: sagittal, horizontal and coronal CT images showing the chin nodules, and the subcutaneous masses of the chin are closely connected with the periosteum (red arrow); e-g: sagittal, horizontal and coronal CT images of the mass on the base of the alar nose, and the hyperplasia of the soft tissues in the subcutaneous area of the inner side of the alar nose (red arrow); h: recurrent occipital mass (red arrow) with local occipital bone resorption defect (yellow arrow)

图3 幼年性玻璃样变纤维瘤病患儿术中照片

Figure 3 Photos of intraoperative surgery of a child with juvenile hyaline fibromatosis a: severe gingival hyperplasia of the entire mouth, covering the incisal and occlusal surfaces of the teeth; b: lump on the inner corner of the mouth with medium texture, gray-white fibrous solid mass on the cut surface

图4 幼年性玻璃样变纤维瘤病患儿切除组织的病理学结果

Figure 4 Pathological results of resected tissues from a child with juvenile hyaline fibromatosis a: the lesion is located in the submucosal layer, with extensive infiltration and no obvious boundary (H&E staining, ×40); b: abundant single-shaped spindle cell proliferation with extensive and uniform glass-like matrix indicates that the lesion is at an early stage (H&E staining, ×200); c: the sparse single-shaped spindle cells are surrounded by an eosinophilic amorphous transparent matrix, with fewer diseased cells, and they are in the advanced stage of the disease (H&E staining, ×200); d-f: immunohistochemistry shows that the tumor cells stained positive for Vimentin (Vim) and negative for SMA and S-100 (IHC staining, ×400)

图5 幼年性玻璃样变纤维瘤病患儿术后情况

Figure 5 Postoperative situation of children with juvenile hyaline fibromatosis Half a year after operation, there was no obvious recurrence of gingival hyperplasia (yellow arrow), and no obvious recurrence of massesonthe bilateral mouth corner and chin (red arrow). Local scar hyperplasia was seen in the corner of the mouth area on the right

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幼年性玻璃样变纤维瘤病1例及文献回顾

Juvenile hyaline fibromatosis: a case report and literatures review

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