Neurofibromatosis type I

Neurofibromatosis type I (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 changes consist of freckling in the armpits or groin (intertriginous freckling) and patches of darker skin (café-au-lait spots).

Signs and Symptoms

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

• Skin changes: These include café-au-lait spots and freckling in the armpits or groin.
• Neurofibromas: These are benign tumors that usually develop on or under the skin, but can also occur in the brain, spinal cord, and other parts of the nervous system.
• Lisch nodules: These are benign growths that appear in the colored part of the eye (iris).
• Bone deformities: These can include curvature of the spine (scoliosis), bowing of the lower leg, and thinning of the shin bone.
• Learning disabilities: These can include attention deficit hyperactivity disorder (ADHD) and problems with speech, language, and coordination.

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. As a result, cells divide uncontrollably and form tumors.

Diagnosis

Diagnosis of NF1 is based on clinical criteria, which include the presence of at least two of the following:

• Six or more café-au-lait spots
• Two or more neurofibromas or one plexiform neurofibroma
• Freckling in the armpit or groin
• 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 managing symptoms and may include surgery to remove tumors, medication to control pain, and physical therapy to improve movement and strength. Regular monitoring is recommended to detect new tumors and other complications.

See also

• Neurofibromatosis
• Genetic disorder
• Tumor

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