DOI: 10.36347/sjmcr.2018.v06i09.003

Pages: 617-620

Plexiform neurofibromas arise as bulging and deforming masses from multiple nerves, also involving connective tissue and skin folds. It represents an uncommon variant (30%) of neurofibromatosis type 1 (NF-1). Due to the soft and diffuse nature of plexiform neurofibroma, it is often difficult to distinguish it from a vascular malformation or a lymphangioma. Thus requires thorough clinical and histopathological examination and imaging of the lesion. Because of its consistency it is compared to 'a bag of worms'. We report a rare case of a 19-year boy who presented with a progressive skin deformity which initiated in early childhood. On clinical examination there were multiple neurofibromas and café-au-lait macules on the trunk and arms. Histopathological examination of biopsy sample showed overgrowth of peripheral nerve components and connective tissue. Two diagnostic criteria for NF-1 (plexiform variant) were met. The patient did not accept to undergo genetic testing. USG of the local lesion confirmed the presence of a deforming mass with mixed ecogenicity and increased vascularity. Surgery is the mainstay of the treatment. Excision of the lesion was done followed by skin grafting. Diagnosis of plexiform neurofibromas is usually made clinically, especially if classical hallmarks of NF-1 are present. Therapy is surgical, aiming at resecting deforming masses and cancerous tissue when malignant transformation occurs.