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

• Conditions: Neurofibromatosis 2; Dermatology/Skin - Other
• Interventions: Other: no intervention

• Registration Number: NCT03893643
• Lead Sponsor: Centre Hospitalier Universitaire de Nice

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.

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Status Verified: 2019-01
• Study Start: 2019-01-01
• Study First Submitted: 2019-01-21
• Study First Submitted QC: 2019-03-27
• Last Update Submitted: 2019-03-27
• Study First Posted: 2019-03-28
• Last Update Posted: 2019-03-28
• Primary Completion: 2022-12-31
• Study Completion: 2022-12-31

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 1000

Inclusion Criteria

• age up to 15 years
• diagnosis of neurofibromatosis type 2

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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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
pediatric population	no intervention	Pediatric population aged 0 to 15 years with neurofibromatosis type 2

Primary Outcome Measures

Name	Time	Method
number of cutaneo-mucous lesions present in children with neurofibromatosis type 2	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 Outcome Measures

Name	Time	Method
number and type of neurological manifestations.	3 years	number and type of neurological clinical data, clinical examination
number and type of ophthalmological manifestations.	3 years	number and type of ophtalmologic clinical data, clinical examination
number and type of descriptioin of ENT manifestations.	3 years	number and type of ENT clinical data, clinical examination

Trial Locations

Locations (1)

Nice Hospital; 🇫🇷 Nice, France