Cutaneous and Mucosal Manifestations of Neurofribromatosis Type 2 in Children Under 15

Study Overview
=================
Brief Summary
-----------------
.Neurofibromatosis type 2 is an inherently autosomal dominant genetic disease, but cases of mosaicism or de novo mutation are not uncommon. the prevalence is estimated at 1 / 60,000. the clinical presentation is based on the appearance of tumors in the central and peripheral nervous system. The current average age of diagnosis is around 25 to 30 years depending on the studies. Currently, the diagnostic criteria are based on the ENT, neurological and opthalmological manifestations of the disease. Cutaneous manifestations have been described in these patients. Except now, mucocutaneous manifestations of the disease are not taken into account for depisatage or diagnosis. The purpose of this study would be to identify the different cutaneous and mucosal manifestations in a pediatric population under 15 years of age, and to analyze whether this might be of interest in early detection of the disease in association with other symptoms.

Official Title
-----------------
Multicentre Prospective Observational Study: Resentment of Mucocutaneous Manifestations and the Value of Dermatological Examination in the Early Detection of Type 2 Neurofibromatosis in Children Under 15 Years of Age

Conditions
-----------------
Neurofibromatosis 2, Dermatology/Skin - Other

Intervention / Treatment
-----------------
* Other: no intervention


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: age up to 15 years diagnosis of neurofibromatosis type 2 Exclusion Criteria: refusal to participate in the study informed consent that can not be obtained because of a disability or difficulties with a - language barrier

Ages Eligible for Study
-----------------
Maximum Age: 15 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| pediatric population<br>Pediatric population aged 0 to 15 years with neurofibromatosis type 2 | Other: no intervention<br>* no intervention in an observational study<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| number of cutaneo-mucous lesions present in children with neurofibromatosis type 2 | number of cutaneo-mucous lesions obtain after complete dermatological clinical examination ; if possible take photographs for publication with the patient's consent ; histological results if cutaneous biopsies were performed outside the study | 3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| number and type of neurological manifestations. | number and type of neurological clinical data, clinical examination | 3 years | 
| number and type of descriptioin of ENT manifestations. | number and type of ENT clinical data, clinical examination | 3 years | 
| number and type of ophthalmological manifestations. | number and type of ophtalmologic clinical data, clinical examination | 3 years |