Neurofibromatosis Type 1

Neurofibromatosis Type 1 (NF1), also known as von Recklinghausen's disease, is a genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin color (pigmentation). The pigmentation abnormalities often include pale patches of skin (café-au-lait spots) and freckling in the armpits or groin area.

Signs and Symptoms

The signs and symptoms of NF1 vary widely in severity and include:

• Skin abnormalities: Most people with NF1 have changes in skin coloring (pigmentation), such as café-au-lait spots, freckles in unusual places, and a variety of other skin features.
• Neurofibromas: These are benign tumors that are usually harmless but can cause pain, skin deformation, and other complications.
• Lisch nodules: These are harmless areas of pigmentation in the iris of the eye.
• Bone deformities: These can include sphenoid dysplasia and tibial dysplasia, which can lead to bowing of the legs.
• Learning disabilities: These are common in NF1, although the reason for this is not well understood.

Causes

NF1 is caused by mutations in the NF1 gene, which provides instructions for making a protein called neurofibromin. This protein helps regulate cell growth and division. Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division effectively. As a result, cells grow and divide uncontrollably to form the tumors and other abnormalities seen in NF1.

Diagnosis

Diagnosis of NF1 is based on clinical criteria. If a person has two or more of the following features, they are said to have NF1:

• Six or more café-au-lait spots
• Two or more neurofibromas or one plexiform neurofibroma
• Freckling in the armpit or groin area
• Two or more Lisch nodules
• A distinctive bone lesion
• A first-degree relative (parent, sibling, or child) with NF1

Treatment

There is currently no cure for NF1. Treatment is aimed at controlling symptoms and managing complications. This can include surgery to remove tumors, medication to control pain, and physical therapy to improve mobility.

See Also

• Neurofibromatosis
• Genetic disorder
• Mutation

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