Juvenile hyaline fibromatosis: a case report

Juvenile hyaline fibromatosis (JHF) is an unknown hereditary disorder with variable penetrance. The characterizations of this disease consist of different signs and symptoms such as multiple tumorous (tumor-like) muco-cutaneous proliferation, gingival hypertrophy, perianal lesions, articular contractures, and osteolytic lesions. A 3-year-old girl with numerous painless nodular masses on her gingival, ear and anal areas is presented in this case report. Based on characteristic histological features, the diagnosis of JHF was made. The patient underwent surgery following general anesthesia and the above areas were surgically operated with appropriate laser parameters, and the patient was able to eat and wash away after a day and was discharged with an antibiotic prescription after one day in the hospital and returned to normal after a week. The recurrence occurred in other areas a year later, especially in the cheek, the ears and the anal area. Therefore, this rare case is presented with recurrence.

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

BJR|case reports ◽

10.1259/bjrcr.20210167 ◽

2022 ◽

Author(s):

Jinfen Yu ◽

Wang Linsheng ◽

Tian Jing ◽

Yu Xuewen ◽

Lixin Sun

Keyword(s):

Skeletal Muscle ◽

Case Report ◽

Autosomal Recessive ◽

Genetic Disorder ◽

Juvenile Hyaline Fibromatosis ◽

Autosomal Recessive Condition ◽

Hypointense Signal ◽

Head Neck ◽

Chromosome 4Q21 ◽

Hyaline Material

Objective: Juvenile 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 T1WI and hypointense signal on T2WI. The boundary between the lesion and skeletal muscle is unclear. Methods: An 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 nonconsanguineous. Results : JHF 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.

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