Effectiveness of Surgery in the Management of Neurofibromatosis 1 (Von Recklinghausen disease)

Introduction/Purpose Neurofibromatosis 1 (NF1) is the second frequent genetic disease in the world occuring in 1 birth on 3000 with numerous complications affecting all types of tissues and organs, including transformations in Malignant Neural Sheath Tumor (MNST). Today no medical treatment is available. Most surgeons are reluctant to any action because of per operative bleeding and because the long term results are usually poor, due to the excess of laxity and lack of elasticity of the tissues. A more aggressive attitude is uncommon but can be effective in term of reduction of MNST developpement improvement of quality of life and with limited side effect if correctly managed.

Material and Methods Orientation and treatment of 952 adults suffering of neurofibromatosis 1 in our reference center were studied retrospectively from 1995 to 2009. The data concerning the length of stay, tumor characteristics, the surgical technique and complications were collected as result in quality of life scale.

Results The patients were followed up in Dermatology (N=952), Plastic Surgery (N=243), and neurosurgery (N=39). The 243 patients from plastic surgery underwent 421 procedures. 210 neurofibromas were localized on the head and neck, 481 on the trunck and 284 on the limbs. 192 included a plexiform component. 21 patients had MNST The mean hospitalization time was 3,75 days. The mean size of the plexiform neurofibromas was 64cm2. We developed an intratumoral resection technique with tumescent infiltration, bipolar cautery and fibrin glue allowing only 16 blood transfusions (4% of the procedures) correlated to the tumor size. This technique was applied to 29 patients with hemifacial hypertrophy. Intralesional resection with facial cosmetic unit respect progressively replaced the classical lifting suspension techniques.6 patients with orbital osseous defects have received high-density polyethylene implants. Multiple cutaneous neurofibromas were removed by Laser in 28 patients from 1995 to 2007. One patients required a composite tissue allotransplantation of the 2 lower third of the face. All patient showed improvement in quality of life.

Conclusion: The centralization of the patients in our multidisciplinary center has led to develop specialized surgical approaches, to solve the bleeding problem and allow massive resections for stable results. Developpement of MNST has been reduced with this technique as improvement in quality of life. Surgery is safe and efficient in the treatment of Von Recklinghausen desease.