Lipofibromatous hamartoma: review of early diagnosis and treatment.

BACKGROUND

Lipofibromatous harmartoma (LFH) is a rare tumour that requires early diagnosis and treatment. To alert physicians to the possibility of this tumour, we review the epidemiologic and pathological characteristics, the presentation, diagnosis and treatment of LFH in the upper extremity.

METHODS

We obtained data from a MEDLINE search of the English literature from 1966 to June 2003, using the search terms "lipofibromatous," "hamartomas of the nerve," "macrodactyly" and "intraneural lipoma."

STUDY SELECTION

Articles that demonstrated institutional experience (epidemiologic, diagnostic and therapeutic, and complications) and those that provided general reviews were selected for inclusion. Of 501 identified articles, 42 fulfilled the review criteria.

DATA EXTRACTION

Relevant clinical, diagnostic and therapeutic evaluations were extracted from the literature and synthesized.

DATA SYNTHESIS

LFH is distinguished pathologically from other intraneural tumours by fibrofatty infiltration around the nerve fascicles. Typically, patients present either early with macrodactyly or later with a forearm mass lesion or symptoms consistent with a compressive neuropathy of the affected nerve. Although MRI is an important tool in the diagnosis of LFH, the diagnosis should be supported with a tissue biopsy. Treatment for patients with no neurologic deficit involves prophylactic decompression of affected nerves at all points of possible compression. Patients with macrodactyly may benefit from debulking, joint reconstruction or amputation.

CONCLUSIONS

LFH differs from other benign nerve tumours with respect to clinical presentation, pathological characteristics, MRI features and management. Because LFH is extensive and inseparable from the nerve fascicles, excision is not recommended.