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

NCT03893643 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2019-03-28

No results posted yet for this 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.

Conditions

  • Neurofibromatosis 2
  • Dermatology/Skin - Other

Interventions

OTHER

no intervention

no intervention in an observational study

Sponsors & Collaborators

  • Centre Hospitalier Universitaire de Nice

    lead OTHER

Eligibility

Max Age
15 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-01-01
Primary Completion
2022-12-31
Completion
2022-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03893643 on ClinicalTrials.gov