LB777 The burden of illness in patients with basal cell nevus syndrome: United States patient registry experience

Basal cell nevus syndrome (BCNS), Gorlin Syndrome, is a rare, autosomal dominant disorder caused by mutations in the Patched (PTCH1) gene, often causing multiple basal cell carcinomas (BCCs) and developmental anomalies. We have established the first United States based registry of BCNS patients to better characterize the disease phenotype and quantitate the burden of disease. Participants completed either a paper or online 4-page survey on clinical characteristics of their disease, associated conditions, family history, risk factors, diagnostic methods, treatment modalities, and quality of life as assessed by Skindex-16. As of March 2016, 142 participants have completed the survey. The average age of participants was 56 years old (SD=16); 96% were Caucasian and 56% were female. The median age for BCNS diagnosis was 15 years old (range: 2-45). All participants reported receiving a diagnosis of BCNS by a physician; 26% had received testing for PTCH1 mutations and 62% reported a family history of BCNS. On average, participants had 18 BCCs per year (median 8) and 312 BCCs over their lifetime (median 226), with 93.5% distributed on sun-exposed areas. BCCs were treated by multiple modalities: 60% with surgery, 20% with topical Imiquimod, 5 Fluorouracil, photodynamic therapy, or cryosurgery, and 20% remaining untreated. The vast majority of BCCs (90%) in participants were surgically excisable. Of the 10% of participants with advanced BCCs, 57% tried vismodegib (a Hedgehog signaling pathway inhibitor); however, only 15% were currently taking the drug due to side effects. BCNS patients in the US have a high burden of BCCs. Similar to BCCs in sporadic patients, individual BCC tumors in BCNS patients grow slowly, and are most commonly treated with surgery or other non-invasive modalities depending on their size and pattern of distribution.