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

ConditionsNeurofibromatosis 2Dermatology/Skin - Other
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0-15
SponsorCentre Hospitalier Universitaire de Nice

About this trial

.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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

age up to 15 years

diagnosis of neurofibromatosis type 2

Disqualifiers

refusal to participate in the study

informed consent that can not be obtained because of a disability or difficulties with a - language barrier

Trial population

patients with neurofibromatosis type 2

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • no intervention

    Other intervention

    no intervention in an observational study

Treatment groups

1,000 Participants
are divided into 1 treatment group
Group A: pediatric population1 intervention

Trial outcomes

Primary outcomes

1

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

Time frame
3 years

Secondary outcomes

1

number and type of neurological manifestations.

number and type of neurological clinical data, clinical examination

Time frame
3 years
2

number and type of descriptioin of ENT manifestations.

number and type of ENT clinical data, clinical examination

Time frame
3 years
3

number and type of ophthalmological manifestations.

number and type of ophtalmologic clinical data, clinical examination

Time frame
3 years

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Centre Hospitalier Universitaire de Nice

Lead sponsor

Source ClinicalTrials.gov
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