1. Other symptoms
Jean Y Tang MD PhD
Professor of Dermatology

2. Disclosures
Founder, Board of Directors, Stockholder, Consultant: PellePharm Co-inventor, topical itraconazole gel for BCC I will discuss the off-label use of vismodegib

3. Overview Non-skin symptoms of Gorlin Syndrome Ovarian fibromas/cysts
Scoliosis
Emotional life and depression
QOL scores: impact on future drugs and insurance payment
Why GS Alliance Matters

4. Results from Registry: Other Skin, Brain, Ovarian Symptoms
58%
23%
13% 6% 4% 3%

5. Results: Other Skin, Brain, Ovarian Symptoms
58%
23%
13% 6%
“tumor” not “cancer”
What is the age of patients with these symptoms? 4% 3%

6. Current protocol for care management (pediatric)
Baseline MRI of brain; repeat yearly (if asymptomatic) until age 8 yr, then discontinue
Baseline dermatologic examination; repeat yearly until first BCC develops and then every 6 months (or more frequently as needed) throughout life
Baseline Digital Panorex of jaw as soon as tolerated and then yearly until the first jaw cyst develops. Repeat every 6 months until no jaw cysts for 2 years or until age 21 yr
Pelvic ultrasonography in girls at menarche (or earlier if symptomatic). Repeat if symptomatic
Molecular diagnosis (if desired) for patients with family history and known mutation
Baseline scoliosis assessment at one year of age and then every 6 months for progression if present
Routine developmental screening and referral for all children who do not meet developmental milestones
Baseline cardiac ultrasound. Repeat if symptomatic
Annual vision, hearing, and speech screening through school age
Baseline ophthalmology evaluation. Repeat if symptomatic
Baseline psychological evaluation. Follow-up as needed
Minimize radiation exposure, maximize protection

7. Current protocol for care management (adults)
Baseline MRI of brain (if not done at age 8 yr or later). Repeat as needed if symptomatic
Dermatologic examination every 4 mo (or more frequently if new lesions present at each examination). More frequent skin evaluation if new lesions appear at each visit
Digital Panorex of jaw annually. Repeat as needed if symptomatic
Prenatal or preconception counseling if desired. Ob/gyn evaluation annually. Pelvic ultrasound at baseline and if symptomatic
Medical/clinical genetics counseling  
Psychological evaluation as needed
Neurology evaluation if prior diagnosis of medulloblastoma
Annual nutritional assessment of vitamin A, B, C, D
Minimize ionizing radiation, maximize sun protection

8. Quality of Life: Emotional, Social and Physical Impacts of Gorlin Syndrome

10. Your participation counts: Results from the GS Alliance (BCCNS network)

11. You are not alone: Gorlin syndrome patients have more worry and depression

12. You are not alone: GS affects your emotional and social life

14. Over 50% of GS patients are clinically depressed

15. Emotional life is impacted no matter how many BCCs you have
Median: 145 BCCS
# Lifetime BCCs
Keep slide?
Label axis
“how do I as a patient stay on the left side of the graph?”
Present another slide for adult only (18+)
Participant ID
*Average Current Age: 40.4 Years

16. GS impacts Skindex score: surveys count

17. Guided by patient and family questions
Listen
Connect: meetings, Facebook, whatever forum works for you
Make your voice count
Participate in studies and trials

18. Thank you tangy@stanford.edu Other symptoms Jean Y Tang MD PhD
Professor of Dermatology