What is Neurofibromatosis? | Atypical and typical cases

What is Neurofibromatosis? | Atypical and typical cases

Neurofibromatosis is a genetic disorder that affects the growth and development of nerve cells, characterized by the growth of tumors that develop along the nerves anywhere in the body and can present with various symptoms. These tumors are usually benign and non-cancerous. This condition is inherited in an autosomal dominant pattern, meaning only one parent needs to carry the abnormal gene to pass it down to their children. If one parent has neurofibromatosis, any children have a 50% chance of inheriting the disease.

There are three types of neurofibromatosis: type 1, type 2, and schwannomatosis. The most common form is type 1, which usually presents during childhood. NF1 occurs in approximately 1 in 3,000 to 4,000 individuals worldwide, but NF2 and schwannomatosis are much rarer, occurring in about 1 in 25,000 to 40,000 individuals. All three types of NF occur in all ethnic and racial groups.

In this video, we will talk about neurofibromatosis type 1, which is the common form. The symptoms can vary among patients, but some common symptoms include the presence of multiple flat hyperpigmented macules called café-au-lait spots, which are usually present at birth or early childhood. Sometimes the lesions can be skin-colored and pedunculated. Actually, pedunculated or stalked form is a common subtype of subcutaneous neurofibromatosis. The number of lesions usually increases during early childhood and stabilizes over time.
These patients usually have difficulties in learning or attention. Bone abnormalities such as Macrocephaly (a large head size), scoliosis (curvature of the spine), pseudoarthrosis, and an increased risk of osteoporosis are common in them.
Other possible symptoms include Lisch nodules, which are tiny bumps on the iris of the eye, a tumor on the optic nerve called glioma, freckling in the armpit or groin area, and cardiovascular problems such as high blood pressure and blood vessel abnormalities.

The diagnosis of neurofibromatosis is based on the presence of clinical features such as pedunculated lesions, café-au-lait macules, bone abnormalities, or freckling in the axillary or inguinal area. Genetic testing is also required to confirm the diagnosis.

Currently, there is no cure for NF. The treatment is focused on managing the symptoms. Many people with NF1 will not require any long-term treatment for any symptoms during their lives. These treatments may include surgery to remove lesions, managing scoliosis by using braces or orthopedic interventions, using medications to reduce pain and controlling blood pressure. Chemotherapy may be used to treat optic pathway and brain gliomas. Studies have shown the efficacy of Selumetinib as a treatment for children over two years old to help stop tumor cells from growing.
#neurofibromatosis
#cancer
#dermatology

• Category

  Neurofibromatosis Type 2