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
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Enrollment
- 1,000
- Locations
- 2
- Primary Endpoint
- number of cutaneo-mucous lesions present in children with neurofibromatosis type 2
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.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 0 Years to 15 Years (Child)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Arms & Interventions
pediatric population
Pediatric population aged 0 to 15 years with neurofibromatosis type 2
Intervention: no intervention (Other)
Outcomes
Primary Outcomes
number of cutaneo-mucous lesions present in children with neurofibromatosis type 2
Time Frame: 3 years
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
Secondary Outcomes
- number and type of neurological manifestations.(3 years)
- number and type of ophthalmological manifestations.(3 years)
- number and type of descriptioin of ENT manifestations.(3 years)