Neurofibromatosis - tumor diseasemultiple neurofibromas and age spots, mainly on the skin and mucous membranes. In neurofibromatosis may be affected all the tissues and organs, but more often the skin, subcutaneous tissue, nerve plexus, nerve trunks and roots. Usually neurofibromatosis nodes are located on the trunk, neck and limbs.
Men suffer from neurofibromatosis 2 times more often than women. Often in neurofibromatosis show different birth defects, dementia, acromegaly.
What are the two most common formsneurofibromatosis? - It neurofibromatosis type 1 (the so-called Recklinghausen's disease), and neurofibromatosis type 2 (central neurofibromatosis). Neurofibromatosis type 1 is found in 85-90% of all cases of neurofibromatosis (approximately one in 3,000 people). Neurofibromatosis second type is genetically different from neurofibromatosis type 1, and diagnosed with a frequency of 1:50 000.
The symptoms of neurofibromatosis
The first symptoms of the disease are detected immediatelyafter birth or in childhood, but can occur in adults and for the first time. They are mainly associated with the appearance of the skin, subcutaneous tissue, and in the course of the nerve trunks tumor nodules.
In some cases, the affected area may occur anesthesia zones.
What are the early signs of skin lesionsin neurofibromatosis type 1? First, the so-called coffee stains. They are clearly defined, light brown, can occur at birth, but most occur in the 1st year of life (82%). For the 4th year of life (or before) they are registered in all children with neurofibromatosis type 1.
Peripheral neurofibromas develop in adolescence, but increase in volume and number in early adulthood.
They are represented by soft pinkish color ornormal skin papules or nodes, common on the trunk and extremities. During pregnancy, the number of neurofibromas and their size increases. This important fact should be considered in genetic counseling.
A survey of patients with neurofibromatosis
How often and what inspection should take place patients neurofibromatosis type 1? What does it include?
Children should be surveyed every 6 months, adults - annually. It includes a full neurological examination and blood pressure measurement (development of secondary hypertension).
Children should be monitored continuously because of the danger of formation of kyphoscoliosis, premature ripening or hypogonadism.
The need for laboratorysurvey depends on clinical signs. Such diseases as acromegaly, Addison's disease, gynecomastia, and hyperparathyroidism can also be observed in neurofibromatosis type 1.