While BCCNS is a condition that cannot be cured, you can live a long, full life with proper treatment and management. Everyone is different, depending on how severe or mild their features are.
In general, you can expect some things you need to think about every day, such as medications, and then, there are routine appointments with specialists to monitor individual manifestations (such as BCC’s and KCOT’s), which may be yearly or more frequent. Sometimes, when symptoms progress, your doctor will recommend surgery.
Understanding how BCCNS manifestations are treated will help you in your medical journey. We encourage you to learn as much as you can about how the recommended management for BCCNS so you can be prepared at every step of the way. You can always contact the Network with your questions, but remember that your personal doctor knows your situation best.
The following is the recommended protocol for the management of BCCNS in pediatric and adult persons:
- Baseline MRI with contrast and epilepsy protocol of the brain, repeat yearly (if asymptomatic) until age 8, then d/c
- Baseline cardiac ultrasound
- Baseline dermatologic exam, repeat yearly until first BCC develops, then every 6 months (or more frequently as needed) throughout life
- Digital 6” film panorex of jaw at age 3 or 4 years (or as soon as tolerated), then yearly until first jaw cyst develops. Repeat annually (or more frequently based on patient occurrence) or until age 21.
- Pelvic ultrasound in girls at age 18 (or earlier if symptomatic)
- Molecular diagnosis
- Baseline spine film at age 1, if abnormal, follow for scoliosis risk
- Baseline MRI of brain (for comparison if symptoms develop later)
- Skin exam by a dermatologist every 4 months (or more frequently if new lesions present at each exam)
- Digital Panorex of jaw yearly or less frequently (depending on patient’s concern about radiation). [My personal opinion is that the yearly radiation exposure is of minimal concern compared to the damage jaw cyst can cause]
- Genetic Counseling (and molecular diagnosis)
- Medical Genetics appointment yearly
- Appropriate Psychological support
- Pregnancy Management for at risk Couples
- Prenatal/Preconception Genetic Counseling, if desired
- OB recommendations
- Cardiac ultrasound for fibroma