Von Recklinghausen's disease

Von Recklinghausen's 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).

Symptoms

The symptoms of Von Recklinghausen's disease can vary greatly among individuals. Some people may have only mild symptoms, while others may experience serious complications. Common symptoms include skin changes, such as light brown spots (café-au-lait spots) and freckling in the armpits or groin area. Other symptoms may include bone deformities, learning disabilities, and high blood pressure (hypertension).

Causes

Von Recklinghausen's disease is caused by mutations in the NF1 gene. This gene provides instructions for making a protein called neurofibromin, which helps regulate cell growth. Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth effectively. This allows cells to multiply uncontrollably and form tumors.

Diagnosis

Diagnosis of Von Recklinghausen's disease is based on clinical criteria. These may include the presence of at least six café-au-lait spots, two or more neurofibromas, freckling in the armpit or groin area, a distinctive bone lesion, and a first-degree relative (parent, sibling, or child) with NF1.

Treatment

There is currently no cure for Von Recklinghausen's disease. Treatment is symptomatic and may include surgery to remove tumors, medication to control pain, and physical therapy to improve mobility. Regular monitoring is recommended to detect new tumors and manage complications.

Prognosis

The prognosis for individuals with Von Recklinghausen's disease varies. While some people may have a normal lifespan with few complications, others may experience serious health problems that can affect their quality of life and lifespan.

See also

• Neurofibromatosis
• Genetic disorders
• Tumor