Neurofibromatosis Type 1 Treatment

There is currently no cure available for neurofibromatosis type 1 (NF1). Management of this condition is primarily focused on continued monitoring and assessment of the disease for further problems or complications that can be treated if they develop.

Routine monitoring and assessment of the condition

Most children with NF1 are given a detailed examination every year. This examination includes:

  • A complete skin assessment to check existing neurofibromas and to look for the formation of new ones. Neurofibromas are tumors that develop underneath or on the surface of the skin.
  • A detailed check of the eyes for vision defects.
  • Assessment of the bones to check for curved spine or scoliosis and bone fractures.
  • Assessment of blood pressure.
  • Measurements of physical development.
  • Assessment of skills such as reading, writing and comprehension to check for learning difficulties.
  • The child is also monitored for signs of any behavioral problems.

Symptomatic management of patients

Café au lait spots - There is no effective treatment currently available for the coffee colored patches that typically develop in this condition. Children who are finding them particularly distressing may benefit from camouflage make up to mask the lesions.

Treatment of neurofibromas - Neurofibromas are not generally painful but can cause distress due to their unattractive appearance. They can also press on other parts of the body or get caught in clothes, in which case they may cause pain and irritation. Sometimes, these growths can be removed with the use of laser surgery but plastic surgery is usually required.

Plexiform neurofibromas - These large, painful growths that occur at nerve junctions can be more challenging to treat as they have often spread to nearby tissues.

Learning difficulties - Learning difficulties may be addressed by a team of specialists including a speech and language therapist, an educational psychologist and an occupational therapist.

Behavioural problems - For those with behavioral problems such as attention deficit hyperactivity disorder (ADHD), approaches such as counselling and psychotherapy can help patients find ways to cope with the condition and medications such as methylphenidate can help improve concentration and attention span.

High blood pressure - Moderate hypertension can usually be brought under control though lifestyle changes such as reducing salt intake, exercising regularly and maintaining a healthy body weight. In cases of very high blood pressure, however, medications such as angiotensin-converting enzyme (ACE) inhibitors may be prescribed.

Bone deformities - While mild scoliosis may correct itself over time, moderate cases may require a brace to correct the spine’s position and in severe cases, surgery may even be required to realign the vertebrae. A condition called pseudoarthrosis refers to fractures in the tibia, which may lead to abnormal bone movement and bowing of the leg that may require surgery to correct. A bone graft may be performed to “plug” the fracture or metal screws and rods may be used to reconnect pieces of bone.

Epileptic seizures - Various different treatments are available to help reduce epileptic seizures.

Further Reading

Last Updated: Dec 30, 2022

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.


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