Neurofibromatosis diagnosis

Neurofibromatosis is a genetic disease that causes tumors of the nervous tissues. Therefore, when diagnosing, the medical history of the patient and his close relatives is essential. For example, there are cases of neurofibromatosis in the family. In that case, the patient also may have it. Diagnosis begins with an external examination. The doctor draws attention to the presence of skin spots the color of "coffee with milk," subcutaneous tumors, scoliosis, and bone deformities. Often neoplasms occur under the skin and can be felt and seen. Depending on the illness features, the patient may need to consult a dermatologist, neurologist, oncologist, ophthalmologist, or other specialists. Then, the doctor determines the direction of further study:Lab urine and blood tests to assess the work of the liver and kidneys and tests for oncomarkers. Genetic testing to learn about damage to genes that control cell division and lead to disease. Ultrasound, MRI, or CT. Studies visualize tumors located deep inside, such as spinal cord or brain tumors, inside and around the auditory nerves, etc. A biopsy and histological examination of a small tumor sample can be prescribed as additional methods to determine its characteristics and malignancy. As a rule, diagnosis helps physicians prepare further therapy so patients get timely treatments.