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?

Girl's arm demonstrating neurofibromatosis birthmark.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.

More information on this condition is available in the NEUROFIBROMATOSIS section of this website.

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