Basal cell nevus syndrome |
This is a genotype with recommended actions if clinically confirmed. In brief:
- Basal cell nevus syndrome (BCNS; also known as Gorlin syndrome) is characterized by developmental anomalies and a predisposition of neoplasms. Multiple basal cell carcinomas (BCCs) are common and mostly occur on the face, back, and chest and may range in number from a few to several thousand.
- Recommended management protocol for surveillance of adults with BCNS includes full skin exams every 4 months, annual medical evaluation and digital panorex of jaw, and nutritional assessment including vitamins A, B, C and D, among other recommendations.
- BCNS patients are advised to limit radiation of all types, and excessive sun exposure.
The full ClinGen Actionability report about Basal cell nevus syndrome (BCNS) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.