Causes and symptoms

Neurofibromatosis Type 1 (NF1) is a genetic condition that causes tumors to form from nerve tissue anywhere in the body. The tumors are usually benign (noncancerous), but they may be a concern if they pinch a nerve or interfere with other parts of the body. The incidence of NF1 is not rare. It occurs in about 1 in 3,000 people.

NF1 can affect a child with this condition in a wide variety of ways, even within families that are affected by the condition. Children with NF1 can present with hyperpigmented skin spots, known as café-au-lait macules, as well as freckling in the armpits and groin region. They can also have benign soft tumors in their skin, known as cutaneous neurofibromas, or on the inside of their bodies, known as plexiform neurofibromas. Tumors within their brain and other organs can also occur. Often children with NF1 will have difficulties with schoolwork, anxiety and depression. Treatments are available to help manage the condition.

Diagnosis and Outlook

If a patient has two out of the following set of clinical criteria, then a diagnosis of NF1 is highly likely.

1. Six or more cafe-au-lait macules that are > 5 mm in diameter in prepubertal and > 15mm in diameter in postpubertal individuals
2. Two or more neurofibromas of any type or one plexiform neurofibroma
3. Freckling in the axillary or inguinal regions
4. Optic pathway glioma
5. Two or more lisch nodules (iris hamartomas)
6. Distinctive bony lesion, such as sphenoid dysplasia or thickening of long bone cortex with or without pseudoarthrosis
7. First-degree relative with NF-1

Why Choose Penn State Health for Care

Penn State Health has the only neurofibromatosis clinic in central Pennsylvania, serving patients in a 100 mile radius. We are supported by the Neurofibromatosis Clinic Network and offer comprehensive neurofibromatosis services through our various subspecialists, covering very aspect of neurofibromatosis care. The pediatrics subspecialties include neuro-psychology, orthopedics, neurosurgery, ophthalmology, neurology, endocrinology, pulmonology, genetics, surgery, neuro-radiology and radiation oncology.

Our Experts in Care

Our experts are committed to developing safer, more effective therapies that help reverse the course of neurofibromatosis, including NF1 and NF2. Through clinical trials at Penn State College of Medicine, your child has access to new treatments that are only available in select programs worldwide.