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Recurrent Giant Subcutaneous Tumor in Juvenile Hyaline Fibromatosis
Xinyao Wang1, Jia Wei, Xiaoqiang Wang
1Department of Pediatric Neurosurgery, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Insights
Juvenile hyaline fibromatosis (JHF) is a rare genetic disorder causing abnormal collagen buildup. This case report details a 5-year-old boy with a large, recurrent tumor, emphasizing JHF management challenges.
Area of Science:
- Medical Case Report
- Genetics
- Dermatology
Background:
- Juvenile hyaline fibromatosis (JHF) is an extremely rare autosomal recessive disorder.
- Characterized by abnormal collagen accumulation, leading to tumor formation.
- Presents significant diagnostic and management challenges, especially in pediatric cases.
Purpose of the Study:
- To report a rare case of juvenile hyaline fibromatosis in a pediatric patient.
- To describe the clinical presentation, diagnostic process, and treatment of JHF.
- To emphasize the complexities and multidisciplinary approach required for JHF management.
Main Methods:
- Case presentation of a 5-year-old boy with JHF.
- Clinical examination and diagnostic imaging.
- Surgical tumor excision and pathological analysis.
- Review of previous medical history and treatment outcomes.
Main Results:
- Diagnosis of juvenile hyaline fibromatosis confirmed via pathological analysis.
- Patient presented with a recurrent giant subcutaneous tumor (20 cm) and multiple oral/joint tumors.
- Significant facial deformity and functional impairment were noted.
- Previous surgical interventions led to tumor recurrence.
Conclusions:
- JHF management requires a comprehensive, multidisciplinary strategy.
- Early diagnosis and intervention are crucial, though recurrence is common.
- Further research into JHF pathogenesis and treatment is warranted.
Abstract:
This case report presents a 5-year-old boy diagnosed with juvenile hyaline fibromatosis (JHF), an extremely rare autosomal recessive disorder characterized by the abnormal accumulation of collagen. The patient exhibited a recurrent giant subcutaneous tumor measuring 20 cm in diameter, along with multiple tumors in the oral cavity, gingiva, and joints, leading to significant facial deformity and functional impairments. Previous surgeries at ages 1 and 2 for tumor removal resulted in recurrence. Surgical intervention was performed to excise the large tumor and alleviate symptoms. Pathologic analysis confirmed the diagnosis of JHF. This case highlights the challenges in managing JHF and the need for multidisciplinary approaches in treatment.
