Lumbar plexiform neurofibroma, short stature, and kyphoscoliosis in neurofibromatosis-1: A Rare entity

Abstract

The incidence of neurofibromatosis (NF), comprising NF-1 and NF-2, seems to be rising in Nigeria. The features of NF-1 have not been completely identified in the country. This case report documents a rare massive lumbar plexiform neurofibroma in NF-1, associated with short stature and kyphoscoliosis. The patient was a 38-year-old man who presented on account of a lumbar swelling for 2 months. He has multiple café-au-lait hyperpigmented lesions, multiple neurofibromas, a massive plexiform neurofibroma in the left lumbar area, a short stature, and kyphoscoliosis. His nephew has a similar skin lesion but has no plexiform neurofibroma. Computed tomography scan showed a massive neurofibroma in the lumbar region without evidence of malignant transformation. Concomitant occurrence of a massive plexiform neurofibroma, short stature, and skeletal abnormalities in NF-1, though rare, was presented. The patient had a massive lumbar plexiform neurofibroma, short stature, and kyphoscoliosis in NF-1.