Cutaneous and Mucosal Manifestations of Neurofribromatosis Type 2 in Children Under 15
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: no intervention.
- Who it may be relevant to
- Registry conditions: Neurofibromatosis 2, Dermatology/Skin - Other. Basic parameters: 0 years — 15 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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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
Overview
.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.
Interventions
- Other no intervention
no intervention in an observational study
Primary outcome measures
- number of cutaneo-mucous lesions present in children with neurofibromatosis type 2 [Time frame: 3 years]
Secondary outcome measures (3)
- number and type of neurological manifestations. [Time frame: 3 years]
- number and type of descriptioin of ENT manifestations. [Time frame: 3 years]
- number and type of ophthalmological manifestations. [Time frame: 3 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Nice Hospital — Nice
Identifiers
NCT: NCT03893643 · 18-DERMATO-01