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Neurofibromatosis
Introduction
Neurofibromatosis (NF1) is a very common genetic disease (the second genetic disease in France after CF) and affects on average one birth in 3500.

It is an autosomal dominant disease, which  means that an individual has reached a 50% risk of transmission to their children. However, there are very frequent neomutations of the gene in question explaining the new cases without a family history which account for nearly half of NF type 1 in France. 

The clinical expression of this disease is highly variable, even among members of the same family.
Depending on its clinical manifestations, we can identify several forms of NF, the NF type 1 to 7.

The difference between clinical expression of the NF 1 and NF 2 were explained recently by the identification of two distinct genetic mutations (on chromosome 17 for NF 1 and on chromosome 22 for NF 2)

The neurofibromatosis type 1 is the most common of these forms (95% of all NF), also known as the name of Recklinghausen disease, after the name of Baron Von Recklinghausen who described for the first time in 1882 .

The criteria for diagnosis of the NF 1 and NF 2 have been specified by the Consensus Conference of the National Institute of Health and include skin, nerve, eye, bone and genetic criteria.
 
Support
Once diagnosed, the NF 1 requires a multidisciplinary approach. The variability of clinical expression, unpredictable developments and the risk of complications require regular monitoring of these patients. This monitoring is carried out in France by multi-disciplinary teams belonging to the NF-France network.

The complications can occur very early and need care as much for their rapid social risk (learning difficulties, plexiform neurofibromas) for their morbidity and mortality (optic glioma, bone dysplasia, hypertension, macrocephaly, spinal and peripheral nerves neurofibromas, progressive scoliosis, malignant tumor etc.).

The severity of this disease usually increases with age and there is no sign predictor of evolution, then even the forms that seem benign require monitoring.

The monitoring involves mostly  clinical examination to detect the development of existing lesions and identify the emergence of new manifestations. Additional tests are not offered in a systematic manner in adults, being justified on arguments clinics. In children, ophthalmological examination can be difficult, a brain MRI is systematic.

  
Treatment of skin manifestations
The plastic surgery in collaboration with dermatology takes place in the treatment of café au lait spots, lentigines and neurofibromas.

The evolution of plastic surgery techniques and dermatology allows in some cases to respond satisfactorily to the demands of patients, but for very aggressive forms with mutilating plexiform neurofibromas , care remains difficult and limited, allowing improvement in quality of life and not a return to a normal state.

The lentigines
Are lesions similar to TCL, but small and located in the folds axillary and inguinal, appearing later in childhood.


The neurofibromas cutaneous
Are tumors that develop in the dermis and epidermis.

They are soft, mobile skin, often pédiculées, flesh color, pink or violet, of varying sizes, often itchy, see the same painful when they have a component under the skin.

When are small (less than 2 cm) the treatment method of choice is the CO2 laser or electro.

For tumors larger than 2 cm, surgical excision is proposed, under local or general anesthesia, depending on the size and number of injurie

The “café au lait” spot
“café au lait” spot are the first manifestations of NF 1, are often congenital, with widely varying dimensions (0.5 to 50 cm) and pale brown, more or less dark.

In adulthood their number seems to be stabilizing or even declining. Successes by laser treatment have been reported with YAG laser, Q-switch and pulsed ruby, but with temporary results and even worsening were mentioned.

The neurofibromas
The neurofibromas are benign tumors of origin nerve.
There are several types of neurofibromas: dermal neurofibromas, neurofibromas and peripheral nodular neurofibromas plexiformes.


The nodulus neurofibromas
The nodulus NF may be underestimated or skin deep.

The nodulus NF under the skin are small, with the skin above underlying unmodified, firm, painful and with the paresthesias at palpation.

The deep nodulus NF are located on major trunk peripheral nervous and they generate significant pain and functional disorders. An indication of excision should be cautious (suspected malignant transformation for example), since their surgery is difficult, often requiring a sacrifice nervous with functional consequences

The NF nodule should not be confused with schwanommas which are benign tumors with symptoms similar, but different origin and easily extirpables by enucleation.

 
The plexiform neurofibromas
The plexiform NF are swelling of varying size, with skin against abnormal, which involves the husk in its entirety infiltrating often massive adjacent tissues (muscles, bones and so on.) With a high risk of bleeding during trauma. They move from childhood resulting in over time with a significant deformation impact aesthetic and functional important.

Their surgical care is complex and must be carried out by experienced teams, given life-threatening (hemorrhage particularly difficult to control) and the need for multidisciplinary approach often (plastic surgery, maxillo-facial surgery, neurosurgery, orthopedic surgery) . Their resection is modelante, allowing an improved aesthetic and functional ill, without seeking a full excision, often impossible or mutilating.

  
Conclusion
Neurofibromatosis is a complex disease, requires a multidisciplinary approach.  The NF network may propose projects to long-term therapeutic and a monitoring adapted  to each patient.
 
Useful links :
 
 www.anrfrance.org
www.chez.com/neurofibromatose/

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