Surgical management of foot malformations due to neurofibromatosis type 1. Case report

Abstract

Introduction: Neurofibromatosis (NF) is a neurocutaneous syndrome that can affect various organs and systems. It is classified as a rare or orphan disease, and its management represents a clinical challenge.

Case presentation: A 33-year-old female patient with malformations in both feet characterized by the presence of rapidly growing exophytic masses since the age of 3, who had undergone multiple surgeries for the removal of said masses, presented to the Orthopedics Department of a tertiary care hospital in Cali (Colombia) due to lesion recurrence. Based on findings from the physical examination and imaging studies, she was diagnosed with neurofibromatosis type 1 (NF1), meeting four of the National Institutes of Health diagnostic criteria. After determining that the right foot was the most affected, surgical management was initiated with four procedures performed over a period of 31 days: resection of a giant neurofibroma, resection of residual tumors, amputation of the fourth toe of the right foot along with coverage of the plantar surface using a reverse-flow fasciocutaneous flap from the superficial sural artery and skin grafts with placement of a hybrid external fixator as a protective measure for the flap and grafts, and management of small plantar areas using split-thickness skin grafts. Four months after the last intervention, adequate healing and maturation of the flaps and grafts were observed, with no evidence of lesion recurrence, so surgery was scheduled for the management of NF1-related lesions on the left foot.

Conclusion: Based on the results obtained in our patient, it could be stated that accurate diagnosis and multidisciplinary management by specialists in orthopedics and trauma surgery and plastic surgery are highly important for successfully treating NF1-related lesions in the feet, resulting in satisfactory functional and aesthetic outcomes and the subsequent improvement in quality of life.