- Neurofibromatosis 1 (NF 1)
- Neurofibromatosis 2 (NF 2)
- Surgical Removal of Neurofibromas
One of Dr. Panossian’s specialty interests is the treatment of children and adults with neurofibromatosis (NF). Excision of neurofibromas and reconstructive surgery for NF patients is not straightforward and can be quite challenging. This requires a thorough understanding of the effects of neurofibromas on tissues and surgical bleeding. Dr. Panossian is an expert in this area and treats all parts of the body affected by neurofibromatosis, including the arms, legs, trunk, and head and neck.
What is neurofibromatosis?
Neurofibromatosis is a genetic condition that involves abnormal growths on virtually any nerve in the body, including the brain and spinal cord. It is usually diagnosed in childhood and can be inherited from an affected parent in approximately one-half of patients. In other words, there is roughly a 50 percent chance that an affected parent will pass on the condition. In the remainder of patients, there is no known previous family history.
What are the physical signs and symptoms of neurofibromatosis?
Patients may begin to experience their first symptoms in early childhood and adolescence. The hormones of puberty and pregnancy can exacerbate symptoms and stimulate tumor enlargement. Patients often present with pigmented birthmarks called café-au-lait spots on their bodies. Fortunately, most symptoms are relatively mild, and patients can have long and fulfilling lives. However, tumors affecting critical nerves can produce loss of vision, hearing, and severe pain. In addition, various neurofibromas can produce changes in soft tissues, producing mild to severe disfigurement.
Who manages and treats neurofibromatosis?
Because neurofibromatosis occurs throughout the body, management and treatment are usually guided by multiple specialists. A specialized neurologist in a multidisciplinary setting (Neurofibromatosis Clinic) serves as the hub for medical management for many patients. Periodic monitoring of neurofibromatosis is required over a lifetime. Skin examinations, developmental assessments in children, evaluation for early puberty in kids, checking for skeletal changes, and eye examinations are required. A genetics consultation is also a necessary part of early management. Periodic exams and MRI studies of the brain may be required during childhood and adolescence to monitor critical areas where there may be growth of tumors.
Are neurofibromas cancerous?
Neurofibromas are usually benign tumors, but are known to become cancerous in a small percentage of patients.
What are the treatments for neurofibromatosis?
The majority of treatment for neurofibromatosis involves controlling symptoms and growth of tumors. Surgical excision and reconstruction are central to the treatment plan for patients. It is not uncommon to require several surgeries over the course of a lifetime to remove problematic tumors or to improve the appearance of the affected area. Multiple specialists may be required to treat tumors depending on the anatomy involved. Neurosurgeons, plastic surgeons, orthopedic surgeons, otolaryngologists, and ophthalmologists may need to address problems in specific organ systems.
For those individuals experiencing extensive small skin tumors, electrodessication is a good option for improving the contour of raised small masses. The process involves cauterizing the surface portions of cutaneous neurofibromas, which initially results in a small scab. Healing over the next 2 weeks will then result in the ingrowth of new skin and a flatter contour. Electrodessication does not necessarily remove the possibility of malignant tumors or prevent the regrowth of neurofibromas, but results are usually long-lasting and a vast improvement that can restore confidence. Dr. Panossian performs electrodessication under local anesthesia in the office for small areas of multiple tumors or in the operating room under general anesthesia. An alternative to this procedure is CO2 laser destruction which can be performed similarly under local or general anesthesia.
Is there a cure for neurofibromatosis?
There is currently no known cure for neurofibromatosis. Surgery to remove tumors is not necessarily curative. Neurofibromatosis can affect virtually all nerves in the human nervous system. Therefore, surgically removing all of these tumors is not only dangerous and functionally limiting, but it is neither possible nor necessary.
Why choose Dr. Panossian for treatment of neurofibromatosis?
Dr. Panossian has been treating children and adults with all variants of neurofibromatosis for over a decade. He has an understanding of how neurofibromas can change the anatomy and how to restore the disfigurement produced. Neurofibromas are also extremely challenging to excise. Blood loss during surgery can be quite large, depending upon the size and location of neurofibromas. Therefore, it is imperative to know how much blood loss is tolerable and to know how to perform this task safely. Dr. Panossian rehearses his surgeries for each patient ahead of time and employs several measures during surgery to limit blood loss. He also works closely with his anesthesiologists at every step.
Complications can occur frequently following neurofibroma excision, including formation of a hematoma requiring drainage, infection, or wound separation. Scars can also be quite extensive. These are problems that can occur more regularly than other types of tumor excisions. Dr. Panossian has spent a large part of his career finding ways to limit the complications related to neurofibromatosis surgery. This includes limiting blood loss during and after surgery, placement of scars in concealed locations whenever possible, use of absolute sterile technique, and mastery of reconstructive techniques with maximal preservation of normal nerve function.
Dr. Panossian is passionate about achieving an outstanding outcome for all of his patients. He is particularly interested in the unique aspects and considerations required for patients with neurofibromatosis. If you or your loved one is dealing with neurofibromatosis, please contact Dr. Panossian’s office today for a consultation.
Neurofibromatosis 1 (NF 1)
What is Neurofibromatosis 1?
Neurofibromatosis 1 (NF 1) (also known as von Recklinghausen’s disease) is the more common of the two major types of the condition. It occurs in 1 in 2600-3000 individuals. The NF-1 gene exists on chromosome 17, creating a specific type of regulatory protein for nerves. A mutation in this gene results in dysregulation and uncontrolled cell growth.
Neurofibromatosis 2 (NF 2)
What is Neurofibromatosis 2?
Neurofibromatosis 2 is similar in some respect to NF-1 where a mutation in a specific gene (NF2 gene) on a different chromosome (chromosome 22) causes uncontrolled cell growth. Aside from affecting a different gene than NF-1, it is characterized by specific nervous system tumors including vestibular schwannomas (tumors of the eight cranial nerve involved in balance and hearing), intracranial and spinal meningiomas, and other spinal tumors.
What is Schwannomatosis?
Schwannomatosis is the third major group of neurofibromatosis. It is characterized by multiple nerve sheath tumors (called schwannomas) throughout the body that do not typically involve the skin and present usually in adulthood. A major differentiating factor is the absence of vestibular schwannomas, which are characteristic of NF-2.
Some patients with neurofibromatosis may develop hundreds of superficial skin tumors. They can occur virtually anywhere on the body and can be quite disfiguring. These tumors represent small cutaneous neurofibromas that can be so numerous that removing them individually can be quite scarring and time-consuming.
Electrodesiccation is a technique used to remove these small surface neurofibromas and to help improve the overall contour of the involved area. By applying a brief electrical impulse through the tumor using a specialized probe, it causes “desiccation” or drying of the tissue by heating up only the water content. This results in a dried out bump or skin lesion without causing a significant burn. The treated tissue dies and a small wound takes its place. This goes on to heal on its own with ingrowth of new skin. It is important to note that electrodesiccation does not always result in complete eradication of neurofibromas. Neurofibromatosis is more like a network of tumors of all sizes that are interconnected. They more often resemble “roots of a tree” than a single tumor. This is an important distinction because electrodesiccation will only treat the superficial portions creating the bump and not the deeper tumors. Therefore, to some degree, the neurofibromas will persist beneath the level of the skin. Although treated areas do not typically develop tumors again, there is a chance of new tumors growing immediately adjacent to these areas as a result of progression of the disease process. However, the overall improvement of the skin contour can improve aesthetics and restore confidence dramatically.
Cutaneous neurofibromas occurring in discrete areas can often be treated with topical or local anesthetic injection in the office setting. However, many patients experience a diffuse pattern of skin involvement with multiple nodules occurring over the entire body. For these patients, electrodesiccation can be done with a short general anesthetic in an operating room in order to treat hundreds of skin tumors in one session. Following the procedure, patients are required to apply an antibiotic ointment for 5 days, then a gentle moisturizing cream on a daily basis. Sun exposure of treated areas is to be avoided for up to 1 year or more. This can be achieved with judicious use of sunblock on a daily basis. Depending on the severity and number of skin tumors present, electrodesiccation may need to be performed again to fully treat areas of heavy tumor involvement or simply for touchups.
Electrodesiccation may be used for many other skin blemishes and tumors including sun spots, skin tags, syringomas, basal cell carcinomas, pyogenic granulomas, cherry angiomas, and many other conditions. Call Dr. Panossian today to find out if electrodesiccation is an option for you.
Surgical Removal of Neurofibromas
Whether Type 1 or Type 2, neurofibromatosis produces complex tumors with specific abilities to induce changes to surrounding tissues and cause extensive bleeding. Therefore, simple excision to remove neurofibromas is frequently met with complications. It is important to note that neurofibromas do not behave as other soft tissue tumors. Their occurrence and growth is related to the release of specific hormones that can impact surrounding tissues and cellular processes. These hormones are known to soften fat and skin and lead to stretching of ligaments. This can cause drooping of tissues in areas involved with tumor, creating significant deformities. More concerning, hormones released by neurofibromas can result in the interruption of normal clotting, which can lead to extensive blood loss during surgery.
Dr. Panossian’s experience in the removal of both simple and complex neurofibromas has led to the development of a careful and methodical surgical approach. Key factors include monitoring blood loss closely throughout the surgery and employing various clotting agents to avoid excessive bleeding. In addition, drains are used occasionally for large excisions. Other surgical maneuvers are also necessary to avoid hematoma formation and infections. Dr. Panossian also knows when to vary the pace of surgery, something most surgeons neglect, to avoid these complications.
In addition, Dr. Panossian recognizes the deforming effects of neurofibromas on surrounding tissues. Fixing the deformities created requires an expert understanding of plastic surgery and reconstructive principles involving virtually every part of the human anatomy. Concepts of hiding incisions, cutting along natural wrinkle lines, and avoiding vital nerve structures are some of the most complex considerations necessary for a successful outcome. Dr. Panossian understands human anatomy with high precision and is a peripheral nerve expert, making him the ideal person to treat patients with neurofibromatosis.
Every treatment plan is individualized. Every aspect of the surgery is rehearsed ahead of time. Complications and bleeding are anticipated and handled to avoid excessive blood loss. Make sure the surgeon you choose has a deep understanding of these factors and the confidence to help deliver the very best results. Make an appointment with Dr. Panossian today to go over your options.