Neurofibromatosis type 1 with unilateral macrodactyly-like overgrowth: a case report.

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by benign tumors of the nervous system, typically associated with café-au-lait spots and neurofibromas. Macrodactyly usually is referred to as a rare congenital anomaly with overgrowth of bone and soft tissue. In addition, macrodactyly-like patterns of localized digital overgrowth have been described, including nerve-related segmental overgrowth. We report the case of a 22-year-old woman from northern Tanzania presenting with unilateral macrodactyly-like overgrowth of the non-dominant left hand and clinical features of NF1, including café-au-lait spots and multiple neurofibromas. Surgical excision of redundant soft tissue resulted in an improved hand contour and restoration of the first web space. The postoperative course was uncomplicated with preserved early sensory function; however, meaningful assessment of range of motion and dexterity was not possible due to the limited stay of medical staff until three days postoperatively. Intraoperatively, markedly enlarged digital nerves were observed, and histopathology confirmed a plexiform neurofibroma consistent with NF1‑related nerve‑associated segmental overgrowth rather than classical idiopathic macrodactyly. This rare presentation of NF1 with unilateral macrodactyly-like overgrowth highlights the diagnostic challenge of distinguishing true congenital macrodactyly from NF1-associated nerve-related segmental overgrowth in the absence of modern diagnostic tools. Nevertheless, the case emphasizes the need for further investigation into NF1-associated tissue overgrowth and macrodactyly-like digital enlargement, as well as the role of surgery in improving hand contour, potential function, and quality of life in low-resource settings.