NEUROFIBROMATOSIS (NF1) by Maria Artigas

NEUROFIBROMATOSIS (NF1) by Maria Artigas

By At de desembre 06, 2017 0


Neurofibromatosis-1 (NF1) is a hereditary disorder in which tumors (neurofibromas) of  nervous tissues are formed in: 

  • The deep layer of the skin (subcutaneous tissue).

  • The nerves of the brain (cranial nerves) and the spinal cord (nerves or spinal pairs) 


Causes 

Neurofibromatosis-1 (NF1) is a hereditary disease. If either parent suffers, each of their children has a 50% chance of having the disease. 

NF1 also appears in families with no prior history of the condition. In these cases, it is caused by a new change in a gene (mutation) in the sperm or the egg. NF1 is caused by problems with a gene for a protein called neurofibromin. This is why is called like this.

Symptoms

 Neurofibromatosis (NF) causes the uncontrolled growth of tissue along the nerves. This growth can put pressure on the affected nerves.  

When growth occurs on the skin, no significant symptoms appear. If the growth occurs in other nerves or other parts of the body, it can cause pain, severe nerve damage and loss of function in the area stimulated by that nerve. Problems with sensation or movement may occur depending on which nerves are affected. 

The condition can differ greatly from one person to another, even among people in the same family who have the same change in the NF1 gene. 


The "café au lait" spots (café-au-lait) are the hallmark of the NF. Many healthy people have one or two small spots of café-au-lait color. However, adults with six or more spots greater than 1.5 cm (0.5 cm in children) in diameter may have NF. In some people with this condition, these spots may be the only symptom. 

Other symptoms can be: 


  • Tumors in the eye, such as optic glioma 

  • Epileptic seizures 

  • Freckles in the armpit or groin 

  • Soft, large tumors called plexiform neurofibromas, which may be dark in color and may spread under the surface of the skin 

  • Pain (from affected nerves) 

  • Small, elastic tumors of the skin called nodular neurofibromas

Treatment

There is no specific treatment for NF. Tumors that cause pain or loss of some function can be removed. Tumors that have grown rapidly must be removed immediately because they can become cancerous (malignant). Experimental treatments for severe tumors are still under investigation.

Some children with learning disorders may need special instruction.

References


  • Islam MP, Roach ES. Neurocutaneous syndromes. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016:chap 100.

  • Sahin M. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 596.


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