Neurofibromatosis Type 1

Can NF1 be cured?

While it is not possible to cure NF1, much can be done to make sure that you or your child has the best possible outcome.

The multidisciplinary medical team looking after you or your child will be able to address specific medical concerns and routine NF1-related healthcare issues.

What are the medical issues to look out for in childhood and how are they managed?

Sun protection, such as the use of sunscreen, is also recommended.

What can I do to manage my/my child’s increased risk of tumours and cancer?

Screening and management recommendations for individuals below 18 years

• General
  • Annual physical examinations (which include skin and neurological examinations, blood pressure, height, weight and pubertal development)
• Optic nerve pathway gliomas
  • Regular eye examinations
• Malignant peripheral nerve sheath tumours (MPNST)
  • Annual clinical review with an NF1 specialist
  • Further imaging of tumours may be recommended on a case-by-case basis
• Neurofibromas
  • Options for removal (if needed) are surgical excision, laser removal and electrodessication
• Phaeochromocytomas
  • Usually from the age of 10 onwards
  • Annual blood pressure checks
  • Blood tests and/or urine tests (if needed)
• Juvenile myelomonocytic leukaemia
  • Surveillance for children with xanthogranulomas (a type of skin lesion)
  • Blood tests may be ordered if certain features are observed (e.g., prolonged fever, weight loss, loss of appetite)

Screening and management recommendations for individuals 18 years and older

• Optic nerve pathway glioma
  • Regular eye examinations on a case-by-case basis
• Breast cancer
  • Maintain breast awareness
  • Annual breast mammograms and/or breast magnetic resonance imaging (MRI) scans
• Malignant peripheral nerve sheath tumours (MPNST)
  • Annual clinical review and physical examination with an NF1 specialist
  • Encourage early reporting of symptoms
  • Further imaging of tumours may be recommended on a case-by-case basis
• Phaeochromocytomas
  • Annual blood pressure checks
  • Blood tests and/or urine tests (if needed)
• Neurofibromas
  • Options for removal (if needed) are surgical excision, laser removal and electrodessication

Your managing doctor(s) will discuss screening recommendations with you and your child (if needed) in greater detail. The age and onset of screening may depend on the personal and/or family history of NF1. Screening guidelines may change as more information is known.

Other screening and management recommendations

Hypertension

• Further imaging may be recommended to understand the cause of hypertension

Bone problems

• Clinical evaluation of the back
• Management of scoliosis (curved spine) and/or osteoporosis
• Vitamin D supplementation

Neurological or psychiatric conditions and pain

• Screening assessments
• Medications, physical therapy and surgery

These issues may not be encountered by most individuals with NF1. Screening, management or treatment of these problems are offered on a case-by-case basis and will be discussed in greater detail by your managing doctors.