Giant and Recurrent Plexiform Neurofibromatosis in a Young Mexican: Case Study

Rodríguez Sosa Sergio Heinar, Fukumoto Inukai Kenzo Alejandro, Molina Mendoza Nancy Adriana, Garzón Ortega Víctor Hugo, Chávez Serna Enrique and Apellaniz Campo Armando

General Surgery Resident, ISSSTE Susulá Clinic Hospital Mérida, Mexico General Hospital General Dr. Manuel Gea González, Mexico Plastic Surgery Resident, Hospital General Dr. Manuel Gea González, Mexico Plastic surgeon, Hospital General Dr. Manuel Gea González, Mexico

^*Correspondance to: Rodríguez Sosa Sergio Heinar 

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Abstract:

Introduction: Plexiform Neurofibromatosis (PN) is a genetic disorder that typically results in benign tumors forming along nerve sheaths, affecting multiple nerve fascicles. These tumors may not always be visible externally, but imaging can reveal thickened areas within the nerves. PN is a rare condition, occurring in approximately 5% to 15% of patients with neurofibromatosis type 1 (NF-1). It is characteristic for these patients to present, before age one, with “café-au-lait” spots larger than 5 mm and neurofibromas, or nodules beneath the skin. Case Presentation: We present the case of a young adult male diagnosed with PN, with a giant tumor located in the right gluteal and thigh regions. The patient has undergone at least 10 surgical interventions since 2013, with a cumulative resection of over 10 kilograms of tumor mass. However, the tumor continues to recur. Additionally, the patient has a coagulation disorder related to Factor VII deficiency, necessitating a conservative management approach due to the increased risk of bleeding. Outcome: The patient currently reports moderate pain and paresthesia in the right gluteal region and lower extremity, limiting his functional abilities. As a result, a new surgical resection has been scheduled. Discussion: As a genetic condition, PN lacks a curative treatment, though surgery can help alleviate symptoms. This patient presented at birth with a lesion suggestive of a melanocytic nevus in the right lower extremity. Subsequently, he developed a progressive increase in volume in the same region, leading to the diagnosis of PN. Notably, the patient did not exhibit the typical “café-au-lait” spots associated with NF-1, and the tumor has grown aggressively, necessitating multiple surgeries since 2013. Although his symptoms have improved post-operatively, tumor growth has not been arrested. The patient's Factor VII deficiency complicates radical tumor excision, limiting the scope of surgical intervention. A conservative surgical approach has been employed, and further surgery is planned to address pain and functional impairment. Conclusion: Plexiform neurofibromatosis can present with unusual clinical progressions, complicating surgical management, particularly in patients with coexisting conditions, such as coagulation disorders, that limit surgical options. The prognosis remains guarded, and conservative treatment is advised, taking into account the tumor's histopathological characteristics. Categories: Plastic surgery, resection of proliferative diseases.

Keywords:

Plexiform neurofibroma; Giant tumor; Coagulation disorders; Reconstructive surgery

Cite the Article:

Heinar RSS, Alejandro FIK, Adriana MMN, Hugo GOV, Enrique CS, Armando AC. Giant and Recurrent Plexiform Neurofibromatosis in a Young Mexican: Case Study. World J Surg Surgical Res. 2024; 7: 1579..