Massive Upper Extremity Hemihyperplasia Secondary to Neurofibromatosis

A 30-year-old woman with type 1 neurofibromatosis presented with enlargement of the right upper extremity. The condition began in childhood and progressed until the limb reached a nonfunctional and burdensome size from elbow to fingertips. Radiographs showed elongated, thinned bones, and CT demonstrated diffuse soft tissue infiltration. Above-elbow amputation was performed. Pathology revealed diffuse neurofibromatosis of skin, subcutaneous tissues, and muscle without malignant change. Postoperatively, she was fitted with an aesthetic prosthesis and reported marked physical and emotional improvement.

This case illustrates a rare presentation of massive upper extremity hemihyperplasia. Amputation provided meaningful improvement in quality of life.