Central type neurofibromatosis

Central type neurofibromatosis, 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 condition is caused by mutations in the NF1 gene, which is responsible for the production of a protein called neurofibromin that helps regulate cell growth. The disorder affects both sexes equally and has a variable expression, meaning that the severity of the symptoms can differ significantly among affected individuals.

Symptoms and Signs

The symptoms of NF1 can vary widely among individuals. Common signs include:

• Café-au-lait spots: These are flat, light brown spots on the skin, usually present at birth or appearing within the first year of life.
• Neurofibromas: These are benign tumors that develop on or under the skin, or along the nerves. They typically begin to appear during adolescence.
• Lisch nodules: Harmless tiny bumps on the iris of the eye, which do not affect vision.
• Freckling: Freckling in the armpits or groin area, usually appearing by age 3-5.
• Bone deformities: Such as a curved spine (scoliosis) or thinning of the bones of the sphenoid bone, which can lead to a sunken appearance of the eye.
• Learning disabilities: Although intelligence is usually normal, children with NF1 may have learning disabilities.

Genetics

NF1 is an autosomal dominant disorder, meaning that only one copy of the mutated gene is needed for the condition to occur. The NF1 gene is located on chromosome 17 and encodes the neurofibromin protein. Mutations in this gene lead to reduced production or function of neurofibromin, which is thought to act as a tumor suppressor. As a result, the lack of functional neurofibromin leads to uncontrolled cell growth and the formation of tumors.

Diagnosis

Diagnosis of NF1 is primarily based on clinical criteria. According to the National Institutes of Health (NIH), a diagnosis can be made if a person has two or more of the following features:

• Six or more café-au-lait spots over 5 mm in diameter in prepubertal individuals and over 15 mm in postpubertal individuals.
• Two or more neurofibromas of any type or one plexiform neurofibroma.
• Freckling in the armpit or groin area.
• Optic glioma (a type of brain tumor).
• Two or more Lisch nodules.
• A distinctive osseous lesion such as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis.
• A first-degree relative (parent, sibling, or offspring) with NF1 according to the above criteria.

Genetic testing for mutations in the NF1 gene can confirm the diagnosis but is not required for all individuals.

Treatment

There is no cure for NF1, and treatment focuses on managing symptoms and complications. This may include:

• Surgical removal of problematic neurofibromas.
• Treatment of learning disabilities with educational support.
• Monitoring and treatment of cardiovascular issues, such as high blood pressure.
• Regular eye exams to check for the presence of optic gliomas.
• Physical therapy or surgery for bone deformities and other skeletal issues.

Prognosis

The prognosis for individuals with NF1 varies widely. While many people live normal and productive lives, the condition can lead to serious complications, including malignant tumors, cardiovascular issues, and severe cosmetic and functional impairments due to neurofibromas. Regular follow-up with a team of healthcare providers is essential to manage the condition effectively.

Central type neurofibromatosis Resources
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