Background: Neurofibromatosis Type 1 (NF1) is the most common type of neurogenetic disorder with a worldwide incidence of between 1 in 2,600 and 1 in 3,000. NF1 has a wide range of manifestations; as a result, NF1 has no "public persona." Beginning at puberty and continuing thereafter patients may grow cutaneous and subcutaneous tumors (neurofibromas) in large numbers, which cause severe problems with appearance, which are similar in severity to those of psoriasis. Appearance concerns due to tumors affect NF1 patients' Quality of Life (QoL). NF1 patients are at increased risk for depression and treatment for depression and significantly enhance QoL. Improving appearance and QoL by decreasing the number of tumors is the NF1 patient's greatest concern. Improving QoL is an end in itself.
Methods: There are no currently available medical or pharmacological treatments for cutaneous and subcutaneous tumors of NF1. Surgery is the only treatment option for cutaneous and subcutaneous tumors. High Quantity (HQ) surgical removal by several methods has been used.
Results: HQ electrosurgical (ES) allows removal of large numbers of tumors, hundreds per surgical session, appears to be highly effective, and most patients are happy with their results. Other surgical techniques, such as scalpellic surgery, are not effective. Inadequate insurance payments, few plastic surgeons performing HQ tumor removal, lack of support from nonsurgeon physicians, few if any NF clinics providing HQ tumor removal, pediatric orientation, focus on basic research, and a dismissive attitude toward NF1 patients are all components in the unavailability of HQ NF tumor removal. Such surgery is not cosmetic but restoration of normal appearance from disfigurement due to a congenital, neoplastic disease.
Conclusions: National legislation is required to mandate insurance companies to provide coverage for HQ tumor removal. Payments by health insurance companies to plastic surgeons must be reasonable and comparable with other procedures. Effort by neurologists and other nonsurgeons is needed to gain support of plastic surgeons. Strong pressure is needed by support groups of NF for providing NF1 HQ surgery at institutions with NF clinics and for proper payments for surgeons and others.