Neurofibromatosis (NF) is a group of genetic conditions that can affect multiple organ systems, including the brain, nerves, skin, bones, and other parts of the body. It is a progressive disease that can lead to the development of tumors in various parts of the body. Although NF is not a form of cancer, it can cause malignancies.
What are the signs and symptoms of Neurofibromatosis in children?
Neurofibromatosis includes three genetic conditions: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. All three conditions are present at birth, although signs and symptoms may not be noticeable right away. Features often develop gradually over time and can become more apparent throughout childhood or later in life.
NF1 is the most common form and may present shortly after birth. Some signs, such as café-au-lait spots, may be present in infancy, while other features develop as children grow. Symptoms and clinical features of NF1 can emerge at different ages throughout childhood.
NF2 is less common and often presents later than NF1, with symptoms developing in later childhood, adolescence, or early adulthood. Schwannomatosis is rare and most often presents in adulthood.
Common symptoms of NF include:
- Six or more café-au-lait spots (brown or tan patches on the skin)
- Freckling in skin folds, such as under the arms or groin
- Lumps under the skins (neurofibromas) that may increase in size or number of time
- Tiny bumps on the iris, known as Lisch nodules (typically do not affect vision)
- Learning, developmental, or behavioral differences, which are common in children with NF1
- Bone differences, such as scoliosis, or other skeletal changes.
- Tumor affecting nerves, which can cause pain, tingling, or weakness
- Tumors affecting the nerves of the inner ear, leading to hearing or balance problems (more typical in NF2)
Because signs and symptoms vary widely and may develop over time, children with neurofibromatosis benefit from ongoing monitoring and coordinated care.
How is Neurofibromatosis diagnosed?
NF is typically diagnosed based on a combination of medical history, physical examination, and when appropriate, genetic testing. Imaging studies, such as MRI, may be recommended to evaluate tumors or other complications. Additional testing, such as hearing evaluations, eye examinations, or other specialty assessments, may also be used depending on the type of neurofibromatosis and symptoms. A biopsy is rarely needed but may be considered in certain situations.
How is Neurofibromatosis treated?
There is currently no cure for NF. Treatment focuses on monitoring, managing symptoms, and addressing complications as they arise. Many children with neurofibromatosis require regular follow-up visits to monitor growth, development, and potential changes over time.
Treatment may include:
- Regular monitoring and imaging when needed
- Management of learning, developmental, and behavioral differences
- Hearing and vision evaluations
- Treatment of pain or other symptoms
- Surgery or medical therapies for tumors when appropriate
- Management of bone or orthopedic concerns
At Kennedy Krieger Institute, our team provides comprehensive, developmentally informed care from birth through adolescence, with planned transition to adult neurofibromatosis care at age 16 and beyond through our collaboration with the Johns Hopkins Comprehensive Neurofibromatosis Center. We partner closely with families to support children across medical, developmental, behavioral, and educational domains, ensuring coordinated care throughout childhood.