Imaging manifestations of juvenile hyaline fibromatosis: a case report and literature review

• Published in: BJR case reports Vol. 8; no. 3; p. 20210167
• Main Authors: Yu, Jinfen, Wang, Linsheng, Tian, Jing, Yu, Xuewen, Sun, Lixin
• Format: Report
• Language: English
• Published: 01.09.2022
• ISSN: 2055-7159
• DOI: 10.1259/bjrcr.20210167

ObjectiveJuvenile hyaline fibromatosis (JHF) is an autosomal recessive condition caused by a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. JHF is an extremely rare genetic disorder, and fewer than a hundred cases have been reported worldwide. In this case report, the clinical features, histopathological features and imaging manifestations of a case of JHF are presented. We present imaging manifestations of one case of JHF to deepen the radiologist's understanding of this condition. The histopathological feature of JHF is hyaline degeneration involving skeletal muscle. Therefore, the lesion has a slightly high density on CT imaging, iso- or hypointense signal on T 1WI and hypointense signal on T 2WI. The boundary between the lesion and skeletal muscle is unclear. MethodsAn 8-year-old male (Case 1) was examined in our department with a complaint of multiple masses on the head, neck and back in 2021. The boy was the only child of his parents and was delivered at 40 weeks gestation by caesarean section. His parents were non-consanguineous. ResultsJHF displays multiple slowly or rapidly growing subcutaneous nodules. The imaging manifestations can reflect histopathological components, including nodular connective tissue and amorphous, partially calcified hyaline material.