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

Condition(s) studied

Investigational drug(s) / intervention(s)

no intervention: no intervention in an observational study

Study 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.

Eligibility

Primary outcome measure(s)

• 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

Trial sites (1)

More Centre Hospitalier Universitaire de Nice trials in France