Elephantiasis Neuromatosa in Neurofibromatosis Type I Mimicking Venocapillary Malformation

Abstract

Elephantiasis neuromatosa is a rare clinical manifestation associated with the Neurofibromatosis Type 1 (NF1). A 14-year-old male presented with progressive non-tender swelling of left arm and forearm since birth, axillary freckling, café-au-lait macules and lisch nodules in left iris on slit lamp. X-ray, USG and MRI showed abnormality involving areas of the subcutaneous tissue, superficial and deep muscles and underlying bones of left arm and forearm with diffuse hypertrophy of subcutaneous fat with fatty and fibrotic tissue. Multiple vascular structures were seen throughout the arm and forearm with dilated subcutaneous, superficial and deep veins without evidence of arterial feeders. Possibility of diffuse neurofibroma or veno-capillary malformation was given. USG guided TRUcut biopsy confirmed neurofibroma.

Keywords

• gigantism
• hypervascular neurofibroma
• haemangioneurofibroma neurocutaneous syndrome