Multidisciplinary Neurofibromatosis Clinic at Henry Ford Hospital

In 2007, the Multidisciplinary Neurofibromatosis Clinic at Henry Ford Hospital received the Network Affiliate Status award from the Children’s Tumor Foundation (CTF), a national neurofibromatosis organization. Henry Ford is the only Neurofibromatosis clinic in Michigan with this recognition.

What is neurofibromatosis?

Neurofibromatosis is a genetic disorder that causes changes to the skin and tumors of the nervous system. The three most common forms of neurofibromatosis are:

• Neurofibromatosis 1 (von Recklinghausen Disease)
• Neurofibromatosis 2 (central neurofibromatosis or bilateral acoustic neurofibromatosis)
• Schwannomatosis

All three types have distinct characteristics and different genetic causes.

Multidisciplinary neurofibromatosis treatment

Our Neurofibromatosis Clinic is part of the Hermelin Brain Tumor Center at Henry Ford. While not every patient with neurofibromatosis develops a brain or nerve tumor it is one of the many complications the disease might cause. For more than a decade, we have offered multidisciplinary neurofibromatosis treatment, addressing the unique challenges faced by people with neurofibromatosis and their families.

Neurofibromatosis Clinic mission

At the Henry Ford Neurofibromatosis Clinic, our mission is to provide expert opinions, treatment and care for people who have a confirmed or possible diagnosis of neurofibromatosis or similar disorders.

• Neurofibromatosis and schwannomatosis are conditions that are often difficult to diagnose and treat because they affect many bodily organs.
• Many patients require multiple specialists, multidisciplinary management, and surveillance.
• We offer visits with a neurofibromatosis neurologist and referrals to experts who have a true understanding of the disease.

Neurofibromatosis 1 (von Recklinghausen’s disease)

Neurofribomatosis 1 (NF1) is one of the most common genetic conditions, occurring approximately once in every 2,500 births. Typically, NF1 is diagnosed through a physical examination and the involvement of a specialist is often necessary to make the correct diagnosis. NF1 is a highly variable condition, which means that not all affected individuals will have the same symptoms or the same degree of severity. Signs and symptoms of the disease often become apparent in infancy or early childhood. At least 50 percent of individuals with NF1 have learning disabilities.

Common symptoms of neurofibromatosis 1 are:

• Bone defects
• Freckling in the armpit and groin areas
• Lisch nodules (pigmented freckles on the colored part of the eye)
• Multiple dark pigmented patches on the skin called “café-au-lait spots”
• Neurofibromas (benign tumors that grow on the nerves)
• Optic glioma (tumor on the nerve at the back of the eye)

Less common, but more serious symptoms of neurofibromatosis 1 are:

• Blood vessel defects
• Gliomas in the brain
• Malignant peripheral nerve sheath tumors
• Progressive plexiform neurofibromas
• Scoliosis
• Tibial dysplasia

Neurofibromatosis 2 (central neurofibromatosis or bilateral acoustic NF)

This type is characterized by tumors called vestibular schwannomas on the hearing nerves. The tumors can cause:

• Ringing in the ears
• Hearing loss
• Balance problems

The average age of onset is 18 to 24 years. Almost all affected individuals develop vestibular schwannomas on both sides by 30 years of age. Neurofibromatosis 2 (NF2) is a much rarer genetic disease compared to NF1 and is present in approximately 1 in 33,000 births. Schwannomas may also grow on other nerves in the brain and spinal cord. In addition, NF2 may lead to the development of brain tumors, including:

• Astrocytoma tumors: This type of tumor may grow slowly or not at all. When associated with NF2, these tumors are usually closely observed without the need for treatment.
• Ependymoma tumors: These tumors mostly grow in the spinal cord. They usually grow slowly on the spinal cord and sometimes in the brain too.
• Meningioma tumors: These tumors grow from the meninges (the layers of tissue covering the brain and spinal cord).

Schwannomatosis

Schwannomatosis is another rare form of NF. People with Schwannomatosis develop multiple schwannomas (benign tumors) on the nerves in the brain, spinal cord, and nerve fibers outside the brain or spine. Schwannomatosis does not affect the hearing nerves, and has no impact on the ability to hear. While schwannomatosis may vary greatly between people, many individuals have problems with these slow-growing masses causing pain and weakness in the affected muscle.