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

Recruiting now

Conditions studied: Neurofibromatosis 2, Dermatology/Skin - Other

In brief

.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.

Key facts

Study ID

NCT03893643

Run by

Centre Hospitalier Universitaire de Nice

People needed

1000

Starts

2019-01-01

Expected to finish

2027-06-25

Last updated by the study team

2026-06-29

Who can join

Age: any, up to 15. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

• refusal to participate in the study
• informed consent that can not be obtained because of a disability or difficulties with a - language barrier

Where it is running

• Nice Hospital — Nice, France (enrolling)

Full record on ClinicalTrials.gov

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