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Infantile lipofibromatosis of the upper limb

Harvey E L Teo1, Wilfred C G Peh, Mei-Yoke Chan

  • 1Department of Diagnostic Imaging, KK Women's and Children's Hospital, 100 Bukit Timah Road, 229899, Singapore, Singapore.

Skeletal Radiology
|August 13, 2005
PubMed

Insights

Extensive lipofibromatosis in a newborn caused severe limb deformity. Despite debulking and amputation, imaging confirmed the fatty tumor, with no recurrence after three years.

Area of Science:

  • Pediatric Radiology
  • Medical Imaging
  • Histopathology

Background:

  • Lipofibromatosis is a rare benign tumor characterized by mature fat and fibrous tissue.
  • Extensive pediatric lipofibromatosis involving an entire limb is exceptionally uncommon.

Observation:

  • A 1-day-old infant presented with a massive lipofibromatosis affecting the entire right upper limb.
  • Radiographs revealed bone deformity and thinning due to soft-tissue enlargement.
  • MRI demonstrated a large, infiltrating mass with bony erosion, T1-isointense, T2-hyperintense, and enhancing, with intra-lesional fatty signals.

Findings:

  • Histopathology confirmed lipofibromatosis after a debulking procedure.
  • The limb was deemed non-viable, necessitating an above-elbow amputation.
  • Despite unclear resection margins, no recurrence was observed over a 3-year follow-up.

Implications:

  • This case highlights the aggressive presentation and imaging characteristics of extensive infantile lipofibromatosis.
  • Early diagnosis and management are crucial, though limb salvage may not always be possible.
  • Long-term surveillance is important even after extensive surgical intervention.

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