Getting a Neurofibromatosis Diagnosis (NF Diagnosis)

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Getting an NF diagnosis for oneself or a child is overwhelming. Shock, grief, depression and other emotional responses are common when receiving news about an incurable disease. For those familiar with the disease, it is upsetting news. Viewing images and medical information on the internet can add to the confusion and fear of having a rare disease diagnosis.

It is important to understand that many internet images of neurofibromatosis often show severe or extreme disease cases. Fortunately, many patients with NF have very mild symptoms. Also, some of the information available online is geared toward medical professionals and may be difficult to understand for readers without a medical education.

Why an NF Medical Diagnosis is Important

Only a doctor can diagnose neurofibromatosis. Several similar diseases are closely related yet genetically distinct from NF. Their symptoms may be similar, but treatment and prognosis can differ. A neurofibromatosis expert can make the distinction and fully explain the differences. Getting a correct diagnosis may also impact reimbursement from health insurance companies.

NF 1 Diagnostic Criteria

A diagnosis of NF 1 is usually made using a physical exam. Sometimes, genetic or laboratory testing can be used to diagnose even before symptoms may develop. Some symptoms may be present at birth, and others may not develop until a child is age 5 or older. However, in most cases (97%), enough symptoms and features are present to diagnose the disease by age 8. Usually diagnosed during the first decade of life, NF 1 is suspected if there are at least two of the following symptoms present:

• Café au lait spots - six or more (1.5 centimeters or larger in adolescents, 0.5 centimeters in younger children)
• Two or more neurofibromas (pea-sized lumps on or under the skin) or one or more plexiform neurofibromas (larger lumps under the skin that appear swollen)
• Freckling in the groin or armpit
• Optic glioma (non-malignant tumor on the optic nerve) that may interfere with vision
• Small bumps called Lisch nodules (two or more) on the iris (colored part of the eye)
• Bone lesions or abnormal development of long bones
• Abnormal development of sphenoid (eye socket) bone
• A parent, child or sibling with NF 1
• An unusually large head (macrocephaly)
• Short stature
• Seizures, learning disabilities, speech problems, hyperactivity

Café au lait spots commonly appear on the chest, back, pelvis, knees and elbows. Between the ages of 10 and 15, growths may appear on the skin. These flesh-colored growths may number just a few, or there could be thousands. Dr. Weinberg treats these skin growths with the electrodesiccation method (a nearly painless and fast procedure).

Neurofibromatosis Type 2 Diagnostic Criteria

The first symptom of NF 2 that causes patients to see a doctor may be hearing loss or ringing in the ears. These and other related symptoms are typically caused by tumors on the eighth cranial nerve. A doctor may order a magnetic resonance imaging (MRI) scan to assist with the diagnosis. Here are other diagnostic criteria for NF 2:

• Hearing loss
• Ringing in the ears (tinnitus)
• Dizziness and balance problems
• Headaches
• Facial weakness
• Numbness or pain
• Vestibular or acoustic neuromas (tumors that affect hearing or balance), which are typically bilateral (located on both sides of the body)
• A parent, child or sibling with the condition
• Other tumors, such as schwannoma or meningioma
• Cataracts, including a rare form called subcapsular lenticular opacities

Medical Professionals Treating NF

Finding a team of knowledgeable doctors specializing in treating NF is essential for the life-long care and management of NF symptoms. These experts stay up to date on all the latest medical findings, complete additional studies and training for NF and are highly qualified to treat NF patients. These medical professionals frequently contribute information and opinions to NF clinical studies. Dr. Weinberg sits on a review board for the Children’s Tumor Foundation, one of the primary research groups for neurofibromatosis.

NF is a complex and unpredictable condition. Because it is difficult to treat and has the potential for serious medical complications, finding an expert is significant. NF patients may require a team of doctors to manage and treat emerging symptoms and related conditions throughout their lives. Care from the following medical professionals and others may be indicated:

• Plastic Surgeon
• Orthopedic Surgeon
• Radiologist
• Pathologist
• Neurologist
• Neurosurgeon
• Otolaryngologist
• Craniofacial Specialist
• Ophthalmologist
• Adult Oncologist
• Pediatric Oncologist
• Geneticist
• Audiologist
• Rehabilitation Specialist
• Pain Specialist

Please contact Dr. Weinberg’s office to schedule a consultation. His compassionate staff is highly trained and has many years of experience caring for patients with neurofibromatosis. Find out more about electrodesiccation treatment for skin tumors.