Neurofibromatosis represents a group of rare but frequent syndromes, with a worldwide incidence of 1 in 2,600 to 3,000 in live birth rate, this being the most frequent congenital neurogenetic disorder. Its first references are attributed to Von Tilesius and Rudolph Albert von Kölliker in 1793 and 1860, respectively. However, it was not until 1882 that Friedrich Daniel von Recklinghausen, a German pathologist, publish the first classical and detailed description of the disease, recognizing it as a new syndrome.1,4−6
Currently, three types of neurofibromatosis have been described: Von Recklinghausen's disease (Type 1), type 2, and Schwannomatosis (Type 3). 5 NF type 1 is the most frequent variant, accounting for up to 97% of all diagnosed neurofibromatosis. It has an autosomal dominant pattern, although up to 50% of cases are sporadic patterns due to a mutation of the NF-1 gene (17q11.2) that encodes a protein called neurofibromin that belongs to the GAP-like protein family. 6
Neurofibromas are benign tumors derived from the peripheral nerve sheath, composed of Schwann cells, axons, mast cells, fibroblasts, and perineural cells. Most of them begin to appear near puberty, and their location can affect any anatomical site. They are classified into two large groups, according to their type of growth, it is subdivided into localized (nodular), diffuse and plexiform. According to its location, it is subdivided into cutaneous (local or diffuse), subcutaneous, plexiform (diffuse), and nodular. 7–9
The craniofacial area (CF) and neck are affected in more than 10% of all cases and are the most likely to be affected by plexiform neurofibromas, as described in our patient. These usually appear bilaterally and can affect large skin surface and nerve structures (trigeminal, facial, or glossopharyngeal), having severe structural, functional, and aesthetic implications. 10–12
There is no effective medical or pharmacological treatment to prevent the progression of the disease. Patients' priority from the point of plastic surgery is the functional and aesthetic correction, avoiding facial and body disfigurement. Nowadays, there is no surgical technique accepted as the gold standard. The complexity of the surgical resection is related to the size and location of the tumor and the degree of infiltration to perilesional tissues, especially taking into account the use of regional flaps for its primary reconstruction. 12, 13
Latham et al14 described certain precepts that must be taken into account prior to any surgical treatment:
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Histologically, the neurofibromas have not well-circumscribed margins or encapsulated, hence its high recurrence rate of 20–45% at 20 years. All resected neurofibromas must carry a confirmatory histopathological study of the margin.
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The elastin fibers in the dermis progressively fragment and eventually disappear, so in wide resections, the use of skin grafts or flaps should be considered before the surgery event.
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Highly vascular tumors characterize neurofibromas, so its hemostasis must be managed carefully, especially when multiple tumors are planned to be resected.
There are two main currents for surgical treatment. The first current is based on removing only a few tumors in a single surgical time, resecting as priority neurofibromas that involve > 30% of the aesthetic subunit or those that affect joints and folds. The second current is based on resecting the largest number of tumors in a single surgical time, regardless of their location and size. 12,15 In our practice, we accept the first stream as the most acceptable and safest for our patients.
The use of technology is a total aid, especially when talking about resections of large neurofibromas and extensive body surface areas affected. Therefore, the monopolar electrosurgical pencil and bipolar devices must be taken into account in all surgical procedures. Its use has been related to a significant surgical time reduction, bleeding, morbidity, and postoperative complications. In retrospective studies, most patients undergoing this type of surgery have reported positive surgical and quality of life results. 12–14
A surgical alternative is the use of radiosurgical ablation devices. Its use at a frequency of 2.0 to 4 MHz has been associated with a significant reduction in damage to perilesional tissues, less surgical morbidity, and a reduction in hospital stay time. 16
For the primary reconstruction of the affected areas, speaking specifically in radical resections, Uygur et al 17 and Singhal et al 18 reported in their series cases successfully managed with wide radical resections with immediate reconstruction with local and free flaps, proving to be a safe and effective technique. The flaps used were: rectus abdominis muscle advancement flap, latissimus dorsi flap, ALT free flap, and superficial inferior epigastric artery (SIEA) FLAP. Reported complications included partial loss, distal tip necrosis, and donor site dehiscence.
The use of epidermal allografts and composite tissue addressing could mark a watershed in the treatment of NF1, whose condition > 60–70% of body surface area, allowing to reduce surgical morbidity in potential donor areas. 19,20 Another area of particular interest will be composite tissue allogeneic transplantation, such as facial transplantation. In the review by Siemionow et al. 21 they identified 13 cases worldwide between 2005 and 2010, where NF occupies the second main indication for its performance, being facial trauma the most frequent cause. Today it is considered an "experimental" procedure with a mortality rate of up to 15%, so the selection process and patient inclusion criteria should be carefully evaluated in the near future.
To conclude and not least, 73–95% of patients with facial involves are associated with critical psychosocial problems, secondary to social rejection and loss of self-esteem, which in turn is associated with development up to 45% of depression, anxiety, and isolation. 22–23 Therefore, all plastic surgery treatments should be performed with permanent psychological support.