Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is a genetic disorder of the nervous system that causes multiple tumors to grow along nerves in the skin, brain and spinal cord. These tumors are mostly benign, or noncancerous, and most people with NF1 have a normal life expectancy. Nevertheless, NF1 can cause a number of other problems or require tumor removal and is therefore a condition requiring close medical attention.

The most obvious sign of NF is generally Café-Au-Lait (coffee with milk color) spots on the skin. However, NF is suspected only if 6 or more of these spots are found as it is common for people to have one or two. In children, the spots may well appear from birth or develop with age.

In addition to spots, your physician may look for the following:

  • Two or more Neurofibromas, which are benign tumors growing along nerve sheaths and appearing as small bumps on or beneath the skin. These tumors can be removed surgically if they become painful or cosmetically disturbing, and very rarely do they become malignant.
  • Freckles in the armpit or the groin
  • Two or more colored, raised spots on the iris (colored part of the eye), known as Lisch nodules or iris hamartomas
  • A tumor on the optic nerve called an optic nerve glioma
  • Abnormal development of the spine (Scoliosis), skull or chinbone
  • Larger-than-average head size
  • Short stature

Diagnosing NF1
Diagnosis will involve multiple tests including the following:

  • An eye examination by an ophthalmologist
  • Genetic testing
  • Magnetic resonance imaging (MRI) of tumor sites
  • Other tests for complications (see below)

Prognosis and possible complications of NF1
NF1 in general has a good prognosis as the tumors are mostly benign. Symptoms such as curvature of the spine may be treated surgically and most other symptoms are usually managed conservatively. However complications may occur including:

  • Malignant peripheral nerve sheath tumors (MPNST), which occur when plexiform neurofibromas become cancerous. This happens in only three to five percent of cases.
  • Abnormal buildup of fluid in the brain (hydrocephalus)
  • Headaches and Epilepsy
  • Cardiovascular complications:
  • Congenital heart defects
  • High blood pressure (hypertension)
  • Blood vessel damage (vasculopathy)
  • Attention deficit hyperactivity disorder (ADHD)
  • Learning disabilities

Because research has not yet revealed how to stop neurofibromas from growing, treatment for NF1 involves the following:

  • Regular medical appointments to monitor your symptoms
  • Removal as needed of tumors that cause pain, loss of function or cosmetic disfigurement
  • Treating other complications of the disease with medication or surgical interventions
  • Annual eye exams to check for growths

NF1 is a complex disease that can require many specialists to collaborate on its treatment in order to give you the best possible results. You may receive care from one or more of the following specialists at the Neuro spinal Hospital, depending on your specific symptoms and/or complications:

  • Neurologists
  • Neurosurgeons
  • Ophthalmologists
  • Orthopedic surgeons
  • Dermatologists and Plastic and reconstructive surgeons

Meet your team experts
Dr.Arif Khan, Dr.Debora Garozzo, Dr.Sandeep , Dr. Ahmad Bitar, Dr. Matthias Honl