Type 1 neurofibromatosis

July 2017


Definition


Type 1 neurofibromatosis, or von Recklinghausen's disease, is an inherited disorder caused by a mutation in a gene coding for a protein that becomes defective. If one parent is a carrier of this anomaly, the child will automatically be affected by the disease. The particularity of neurofibromatosis is the presence of neurofibromas, generally benign tumors of nerve cells, which appear and grow during puberty. Another form called type 2 neurofibromatosis exists, but is less common. In type 1 neurofibromatosis, other lesions may be present.

Symptoms


Type 1 neurofibromatosis is the cause of one or more of the following symptoms:
  • nerve tumors called neurofibromas, particularly visible on the skin as small growths of the same color;
  • Some neurofibromas are not visible and affect a nerve;
  • light brown spots on the skin called "coffee" spots;
  • Small tumors of the iris called Lisch nodules;
  • an optic glioma tumor, on the optic nerve;
  • freckles located at the folds, especially the groin and armpits, called lentigines;
  • bone lesions with possible deformations.

Diagnosis


The diagnosis of type 1 neurofibromatosis is often suspected in the presence of "coffee" spots on the skin. If one parent has neurofibromatosis, then the diagnosis is confirmed. The presence of at least two of the above criteria specific to this disease can also confirm the diagnosis. Upon discovery of any of these criteria, the others must be sought.

Treatment


Neurofibromatosis cannot be cured. The only relief that can be given to patients with type 1 neurofibromatosis is:
  • the surgical removal of various skin nodules causing discomfort;
  • the laser treatment of neurofibromas;
  • the surgical management of progressive deformities of the spine.

Prevention


There is currently no way to prevent type 1 neurofibromatosis.

Related

Original article published by . Translated by Jeff. Latest update on July 1, 2013 at 01:32 PM by Jeff.
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