@article{XIA2022, 
author = {Liang XIA and Dandan WU and Yang CHEN},
title = {Juvenile hyaline fibromatosis: a case report and literatures review},
year = {2022},
journal = {Journal of Prevention and Treatment for Stomatological Diseases},
volume = {30},
number = {7},
pages = {505-510},
keywords = {hyaline fibromatosis, juvenile, ANTXR2, gingival hyperplasia, subcutaneous nodules, joint contracture, osteolytic destruction, surgical resection, multidisciplinary combination therapy, case report},
url = {https://www.sciopen.com/article/10.12016/j.issn.2096-1456.2022.07.007},
doi = {10.12016/j.issn.2096-1456.2022.07.007},
abstract = {ObjectiveTo investigate the clinicopathological characteristics, imaging manifestations, genetic manifestations, diagnosis and treatment of juvenile hyaline fibromatosis.MethodsA 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.ResultsJuvenile 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.ConclusionJuvenile 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.}
}