Von Recklinghausen disease

Von Recklinghausen disease, also known as Neurofibromatosis type 1 (NF1), 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 color (café-au-lait spots).

Genetics

Von Recklinghausen disease is caused by mutations in the NF1 gene, which provides instructions for making a protein called neurofibromin. Neurofibromin acts as a tumor suppressor, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. 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, tumors such as neurofibromas can form along nerves throughout the body.

Symptoms

The symptoms of Von Recklinghausen disease can vary greatly among individuals. Some people may have only mild symptoms, while others may experience serious complications. Symptoms can include skin changes, learning disabilities, epilepsy, and high blood pressure. In some cases, the disease can lead to the development of other types of tumors, such as gliomas and pheochromocytomas.

Diagnosis

Diagnosis of Von Recklinghausen disease is based on clinical criteria. These can include the presence of six or more café-au-lait spots, two or more neurofibromas, freckling in the armpit or groin area, a distinctive type of eye abnormality called an Lisch nodule, a certain type of bone abnormality, or a first-degree relative (parent, sibling, or child) with NF1.

Treatment

There is currently no cure for Von Recklinghausen disease. Treatment is symptomatic and may include surgery to remove tumors, medication to control pain, and physical therapy to improve movement. Regular monitoring is recommended to check for the development of new symptoms or complications.

See also

• Neurofibromatosis
• Genetic disorders
• Tumor suppressor gene

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