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

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.

Anesthetic Management of a Juvenile Hyaline Fibromatosis Patient With Trismus and Cervical Movement Limitation

Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease characterized by the presence of tissue nodules, joint contractures, and gingival hyperplasia. With a 1-year-9-month-old female patient scheduled for a gingivectomy and excision of a lower lip mass under general anesthesia, it was anticipated that airway management would be difficult because of trismus and limited cervical movement. Intubation with video-laryngoscopic assistance could not be achieved because gingival hyperplasia and trismus prevented blade insertion and manipulation. Therefore, 2 endotracheal tubes were used: 1 used as a nasopharyngeal airway for assisted ventilation, and 1 used for intubation along with a flexible fiberoptic scope. This case demonstrated a useful method for managing ventilation and intubation in patients with JHF, particularly when the use of oral airway devices is difficult.