Other symptoms Jean Y Tang MD PhD Professor of Dermatology

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

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

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

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

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

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

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

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

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

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

Over 50% of GS patients are clinically depressed

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

GS impacts Skindex score: surveys count

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

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