Observational Study of Skin and Mucous Symptoms to Improve Early Detection of Neurofibromatosis Type 2 in Children Under 15

What this Trial Is About

Neurofibromatosis type 2 is a genetic condition that mainly affects the nervous system, leading to the development of tumors. It is often diagnosed between the ages of 25 and 30, with current criteria based on ENT, neurological, and eye symptoms. This study focuses on children under 15 to explore skin and mucous membrane symptoms that might help detect the disease earlier alongside other signs. This is an observational study involving children aged 0 to 15 years who have been diagnosed with neurofibromatosis type 2. No treatments or interventions are administered as part of the study instead, the research team observes and records various manifestations of the disease, especially cutaneous and mucosal lesions. Participants will be monitored over three years to count and describe the number of skin and mucous lesions, as well as neurological, ENT, and eye symptoms. The study aims to gather detailed information that could improve early detection in this young population. The total participation duration covers these assessments without any direct intervention.

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