Neurofibromatosis Clinic

The Neurofibromatosis Clinic is a specialty clinic in UT Health Austin Pediatric Neurosciences at Dell Children’s, a clinical partnership between Dell Children’s Medical Center and UT Health Austin.

The Neurofibromatosis Clinic diagnoses, treats, and manages the care of infants, children, and adolescents with neurofibromatosis (NF), a genetic disorder that causes tumors to grow on nerves throughout the body. We provide comprehensive, multidisciplinary care for patients with NF in a family-friendly center. Our goal is to help your child thrive in every area of life.

The Neurofibromatosis Clinic is the only Central Texas member of the NF Clinic Network of the Children’s Tumor Foundation.

The neurofibromatoses are a group of genetic disorders that can affect almost every organ, including the brain, heart, and skin. Because the disorder affects everyone differently, symptoms can vary from patient to patient. Some may only have mild skin abnormalities, while others may have hearing problems, vision problems, speech impairments, bone deformities, developmental delays, seizures, and learning disabilities. There is no cure for NF, but there are treatments that help patients manage their symptoms.

There are three forms of NF:

• Neurofibromatosis type 1 (NF1)
  NF1 is an autosomal dominant disorder. This means only one parent has to pass down a defective copy of the affected gene to create the condition. NF1 is one of the most common genetic disorders, affecting 1 in 3,000 to 4,000 people. Although there are many symptoms of NF, one of the most common is “café-au-lait” spots (flat, brown spots on the skin). About 95 percent of patients with NF1 have these spots.
  
  Most NF1 skin signs and symptoms appear during infancy, childhood, and adolescence. Many children are born with café-au-lait spots or develop them during their first year of life. Freckles, mainly in the armpits and groin, appear during childhood. Benign (noncancerous) tumors called neurofibromas appear in adolescents and teenagers. Plexiform neurofibromas (PN), a rare type of tumor that can develop into cancer, can appear earlier in childhood than neurofibromas.
  
  Other lesions in children with NF include optic gliomas (slow-growing tumors that affect the eye) and Lisch nodules (tiny domes on the surface of the iris). Other symptoms include bone abnormalities such as sphenoid wing dysplasia (defect on the base of the skull), scoliosis (curved spine), thinning of long bones, short stature, macrocephaly (large head), blood vessel disease, heart disease, and early puberty.
  
  
• Neurofibromatosis type 2 (NF2)
  NF2 is an autosomal dominant disorder. This means only one parent has to pass down a defective copy of the affected gene to create the condition. Children with NF2 may develop noncancerous tumors called vestibular schwannomas. These tumors form on the nerve that connects the inner ear to the brain. They may also develop other tumors on the nerves of the brain, spine, and skin.
  
  
• Schwannomatosis
  Schwannomatosis is a rare genetic disorder that causes benign (noncancerous) tumors called schwannomas to grow on nerves throughout the body. The signs and symptoms usually appear in early adulthood. The most common symptom is long-lasting pain that can affect any part of the body.

Although each form has specific signs and symptoms, all three forms cause tumors to grow on the brain and nerves throughout the body. Most of these tumors are not cancerous, but sometimes they develop into cancer. That’s why early diagnosis and treatment are important.

The most common form of neurofibromatosis is NF1. Most people with NF1 develop neurofibromas, noncancerous tumors that usually appear during adolescence and look like soft bumps under the skin. In most cases, no treatment is needed for these tumors. If the neurofibroma is disfiguring or becomes irritated, however, we may recommend surgical removal. Laser therapy may be used for small, surface lesions.

Because NF is a complex disorder, your child will be cared for by a dedicated multidisciplinary care team, meaning they will benefit from the expertise of multiple specialists across a variety of disciplines. Our board-certified and fellowship-trained pediatric neurologists have extensive experience in NF and work alongside a team of pediatric experts, including ophthalmologists, geneticists, cardiologists, neuro-oncologists, orthopedic physicians, neurosurgeons, endocrinologists, dermatologists, plastic surgeons, psychiatrists, psychologists, radiologists, rehabilitation medicine specialists, social workers, nurses, and advanced practice providers.

To offer the latest therapies for children with NF, our team is involved in clinical drug trials. With our expertise, we are committed to providing the best care for your child at each stage of the disease.

We collaborate closely with referring physicians and other partners in the community, including general pediatricians, to schedule and coordinate any additional care services your child may need. If your child is having trouble coping with their diagnosis, we can refer them to therapists and social workers who will help them succeed at home, at school, and in their extracurricular activities. Improving your child’s quality of life is an integral part of our mission.

Because we care about your child’s overall well-being, we collaborate with the Children’s Tumor Foundation and the Texas Neurofibromatosis Foundation for support and education. These organizations help us host an annual NF Family Day meeting for patients and their families. At this meeting, our care team shares information and updates on the latest NF treatments and research. The meeting also allows families to connect with each other and build relationships.

During the first appointment, your child will receive a full neurological and systemic exam. We will also evaluate them for signs of NF, including café-au-lait spots and freckling in their armpits and groin. Depending on your child’s needs, we may recommend testing, imaging, or lab work.

We will also help coordinate appointments with a pediatric ophthalmologist, a cardiologist, and a genetic counselor. We will refer your child to any other subspecialists they may need.

For more information about the Neurofibromatosis Clinic, please call 1-512-628-1855. You can also fax referrals to 1-512-380-7544.

The collaboration between UT Health Austin and Dell Children's brings together medical professionals, medical school learners, and researchers who are all part of the integrated mission of transforming healthcare delivery and redesigning the academic health environment to better serve society. This collaboration allows highly specialized providers who are at the forefront of the latest research, diagnostic, and technological developments to build an integrated system of care that is a collaborative resource for clinicians and their patients.