Giant plexiform neurofibroma of the upper limb

Abstract

Sir, Plexiform neurofibroma (PNF), which is a pathognomonic of neurofibromatosis type I (NF1), is frequently located on the trunk, head and neck, and rarely on the limbs [1].We present a patient with PNF, who was remarkable because of its location, large size, and associated bone lesions. A 43-year-old multigravida woman was referred to us with a large tumor of the left upper limb. She had a tumor with two pedicles located on the left upper limb since the age of 9 years. This tumor had been resected 10 years earlier when she was 33 years old (Fig. 1). A diagnosis of PNF was reached on pathologic examination of the resected tumor. Because the patient had financial difficulties, no other explorations were performed. The patient was lost to follow-up until she was 43 years of age. The present tumor grew slowly over a period of 10 years, causing disfiguration and psychological disability that affected her activities of daily living. The patient recalled that the onset of recurrence was less than 1 year after resection. The tumor had a “bag-like” appearance on the thigh and was hanging down on a skin pedicle that extended from the shoulder to the elbow area (Fig. 2). It measured 63 cm in its long axis, was covered by a thin skin with visible venous varicosities, and was devoid of any elasticity. The tumor was painless and skin sensitivity of the limb was maintained. The patient wrapped the tumor with a loincloth and tied it around her waist to reduce neck ache due to the weight of the tumor. She was unable to lift her left arm, but use of the elbow and wrist was maintained. On clinical examination, the patient weighted 65 kg and had a height of 155 cm. She had stigmata of NF1: multiple “cafe au lait” spots, skin, and subcutaneous nodules of varying sizes scattered all over the body, axillary and inguinal freckling, and upper left eyelid ptosis associated with Lisch nodules and kyphoscoliosis. Her father had NF1.