Basal Cell Carcinoma Nevus Syndrome is a rare condition in which patients need to meet certain major or minor diagnostic criteria or test positive for chromosome 9 or PTCH1 mutations to be diagnosed. The results of an internet based survey of self-identified adults with BCCNS which was launched through SurveyMonkey with access provided by the Basal Cell Carcinoma Nevus Syndrome Life Support Network (www.BCCNS.org). Of 45 respondents, 11 individuals reported having locally advanced BCCs and 6 individuals reported having both locally advanced and metastatic BCCs. Of the 11 individuals with locally advanced BCCs, 8 reported having lesions on the scalp. Of the 6 patients with locally advanced BCCs, 3 reported having abnormally thick hair distribution. There were 6 individuals with both locally advanced and metastatic BCCs and 5 reported having BCCs on their scalp. Thick hair distribution was reported by 3 of 4 patients with locally advanced and metastatic BCCs. Overall, it was determined that patients with BCCNS develop aggressive BCCs on their scalp despite thick hair distribution. Patients with BCCNS have an overactive hedgehog signaling pathway. This pathway is also known to play a role in follicle cycling and is believed to lead to increased rates of malignancy.1,2 Despite the presence of thick hair, patients with BCCNS should have their scalp skin closely examined to identify and treat BCCs at early stages of development.

Patients with Basal Cell Carcinoma Nevus syndrome are assumed to have a chromosome 9 mutation, such as a PTCH1 [9q22] mutation, despite the majority of patients with BCCNS being diagnosed through the presence of major and minor diagnostic criterion. The main treatment for BCCNS, Hedgehog inhibitors (HhI), targets these mutations. The results of an internet based survey of self-identified adults with BCCNS which was launched through SurveyMonkey with access provided by the Basal Cell Carcinoma Nevus Syndrome Life Support Network (www.BCCNS.org). Of a total of 395 participants, 282 and 289 individuals responded to questions regarding PTCH1 and chromosome 9 genetic testing, respectively. Those who reported having been genetically tested for either PTCH1 and/or chromosome 9 mutations, were limited to 14-28 % of all BCCNS patient respondents. Of those genetically tested, 12% reported they were negative for PTCH1 and 11% were negative for chromosome 9 mutations. Biogenetic pathway testing needs to be performed on a higher percentage of phenotypical BCCNS patients and the results correlated with HhI treatment responses. These results suggest the need to recognize that phenotypical BCCNS consists of multiple subpopulations of patients with differing biogenetic signaling mutations making current treatment less than adequate for phenotypical BCCNS individuals.

Systemic lupus erythematous is a multi-organ autoimmune disease in which the patient has “lost” self- tolerance and developed immune-complexes containing self-antigen that cause disease through tissue inflammation and multi-organ damage. Patients often have unpredictable flares in symptoms with poorly identified triggers. However, it has been suggested in other literature that exogenous exposures, including ingested beef, cigarette smoke, UV radiation, metal-complexing agents, and infections can contribute to exacerbations and improvements in SLE symptoms. New continuous quality improvement assessment survey platform will be develop and utilized to reach out to SLE patients across the globe. This new platform will allow participants to log in and out of the survey enabling them to address 20-50 pages of questions at baseline as well as to edit this delving into the minutia of the activities of daily living as well as lifestyle, diet, and exposures. These exposures can be helpful or harmful to SLE patients. Patients will be asked to update survey responses monthly to capture changes in lifestyle and health as data points over time. Statistical analysis array using complex adaptive systems methodology will be performed on de- identified patient surveys in order to determine if patterns exist in subgroups of SLE patients who experience fluctuations in their disease state over time. Feedback will be given to patients who are then able to adapt accordingly while they participate in the study. Interpretations of this data will then be used to identify which exogenous exposures influence SLE symptoms in specific subgroups of SLE patients. This information will then be used to make improvements in treatment plans for systemic lupus erythematous, and will ultimately result in enhancing the value of SLE patient care.