Neurofibromatosis: its shapes and symptoms


  • Neurofibromatosis and its forms
  • Symptoms of neurofibromatosis
  • Survey of patients with neurofibromatosis

  • Neurofibromatosis and its forms

    Neurofibromatosis - Tumor disease of multiple neurofibrom and pigment spots, mainly on the skin and mucous membranes. With neurofibromatosis, all the fabrics and organs can be affected, but more often leather, subcutaneous fiber, nerve plexus, nerve trunks and roots. Usually neurofibromatosis nodes are located on the body, neck and limbs.

    Men are sick with neurofibromatosis 2 times more often than women. Often, with neurofibromatosis, various congenital defects of development, dementia, acromegaly.

    What are the two most common forms of neurofibromatosis? - These are neurofibromatosis of the type of type (the so-called Reflinghausen disease) and the neurofibromatosis of the 2nd type (central neurofibromatosis). Neurofibromatosis of the type 1 is found in 85-90% of all cases of neurofibromatosis (approximately one of 3000 people). Neurofibromatosis of the second type genetically differs from type 1 neurofibromatosis and is diagnosed with a frequency of 1:50,000.

    Symptoms of neurofibromatosis

    Neurofibromatosis: its shapes and symptomsThe first symptoms of the disease are found immediately after birth or in childhood, but may arise for the first time in adults. They are mainly associated with the appearance on the skin, in the subcutaneous tissue and in the course of nervous trunks of tumor nodes.

    In some cases, anesthesia zones may occur in the field of lesion.

    What are the earliest signs of skin lesions with 1-th type neurofibromatosis? First, these are so-called coffee stains. They clearly outlined, light brown, can meet at birth, but more often appear in the 1st year of life (in 82% of cases). By the 4th year of life (or earlier), they are registered in all children with 1-type neurofibromatosis.

    Peripheral neurofibromes develop in the pubertal period, however, increase in volume and quantity in early adult age.

    They are represented by soft pinkish or color of normal skin by papula or nodes common in bodybuilding and limbs. During pregnancy, the number of neurofibrom and their dimensions increase. This important fact must be taken into account in genetic advice.

    Survey of patients with neurofibromatosis

    How often and what survey should pass by neurofibromatosis of 1 type? That it includes?

    Children need to examine every 6 months, adults - annually. It includes a complete neurological examination and measuring blood pressure (the development of secondary hypertension is possible).

    Children need to be observed constantly due to the danger of the formation of kifoscolyosis, premature ripening or hypogonadism.

    The need for laboratory surveys depends on clinical signs. Diseases such as acromegaly, Addison disease, gynecomastia, and hyperparathyroidism can also be observed with 1-type neurofibromatosis.

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