Abstract: Neurofibromatosis type I (NF1) is an autosomal dominant disorder involving the skin and nervous system. We present the surgical resection experience of two siblings with neurofibromatosis type I (NF1) and giant neurofibromas. The sisters had multiple skin discolorations and swollen areas that gradually increased in size with age. The gradually growing tumors have an impact on their lives and their quality of life. In one case, staged resection was performed following preoperative arterial embolization of the tumor. Through surgery, a tumor weighing 16 kg was removed from one sister and another weighing 11 kg from the other sister. Following surgery, both sisters demonstrated significant improvement in appearance and resumed normal daily activities. Regular follow-up visits were scheduled to monitor for recurrence or new growth. Plain Language Summary: Two sisters with a genetic condition called neurofibromatosis type 1 (NF1) had surgery to remove very large, non-cancerous tumors (called neurofibromas). These tumors had caused noticeable skin changes and swelling that got worse as they got older. While most of their tumors grew slowly, some specific ones grew much faster. The younger sister had rapid growth on her right side from her waist down her leg. The older sister had rapid growth on her left neck, shoulder, chest, back, and arm. Their family has a history of NF1, which was also found in their father and in the older sister’s children and grandchild. Doctors performed surgery to remove these massive tumors. One sister had a tumor weighing 16 kg (about 35 pounds) removed, and the other had an 11 kg (about 24 pounds) tumor removed. After the surgeries, both women looked significantly better and were able to return to their normal daily lives. They will continue to have regular check-ups to watch for any return of the tumors or new growths. Keywords: neurofibromatosis type I, giant neurofibroma, resection
Zhang et al. (Sun,) studied this question.