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Giant dorsal lipofibromatosis in an infant: a case report
Zhiyu Li1, Yuqing Zou1, Guangqi Xu1,2
1Department of Plastic and Aesthetic Surgery, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250021, China.
Insights
Lipofibromatosis is a rare soft tissue tumor. Diagnosis can be challenging due to its low incidence and non-specific presentation, requiring advanced pathology and genetic testing.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Lipofibromatosis is a rare, benign soft tissue tumor predominantly affecting children.
- Its low incidence and non-specific clinical presentation pose diagnostic challenges.
Observation:
- A case report details a giant lipofibromatosis on the back with atypical clinical manifestations, mimicking an infantile hemangioma.
- This presentation significantly complicated the initial diagnostic process.
Findings:
- Postoperative pathological and immunohistochemical examinations were crucial for diagnosis.
- Fluorescence in situ hybridization (FISH) confirmed the diagnosis of lipofibromatosis.
Implications:
- This case highlights the importance of considering lipofibromatosis even with atypical presentations.
- Accurate diagnosis relies on integrating histopathology, immunohistochemistry, and genetic analysis, particularly FISH.
- Early and correct diagnosis is vital for appropriate patient management.
Background:
Lipofibromatosis is a rare, benign, soft tissue tumor that usually presents in children. Low incidence and lack of specificity in clinical presentation make its diagnosis difficult.
Case Presentation:
This is a case report of a patient with a giant lipofibromatosis on the back that resembles an infantile hemangioma, which posed great difficulty in diagnosis due to atypical clinical manifestations. After the postoperative pathological and immunohistochemical examination and fluorescence in situ hybridization, the patient was finally diagnosed with lipofibromatosis.
Conclusions:
The incidence of fibromatosis was low. This case presents an atypical clinical manifestation since the tumor growth was on the back, and this can easily cause misdiagnosis. This case suggests that the diagnosis of lipofibromatosis depends on the pathology and fluorescence in situ hybridization.
