148 A case-control study of the skin manifestations of osteogenesis imperfecta

Abstract

148 A case-control study of the skin manifestations of osteogenesis imperfecta HB Pasieka, J Qi, MS Jang, JA Jefferson, Y Balagula, N Kim, S Leung, D Kuhn, JR Shapiro, S Kang and AL Chien 1 Dermatology, Johns Hopkins University, Baltimore, MD and 2 Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD Osteogenesis imperfecta (OI) is a congenital disorder resulting in brittle bones, associated with collagen deficiency. Despite the important role of collagen as a component of skin, the dermatological manifestations of this disease continue to remain an understudied topic in literature. In this case-control study, 15 participants with OI were recruited, along with 15 controls. Case-control pairs were matched in age (mean1⁄446.5), sex (22 females, 8 males), and race (22 Caucasians, 4 African-Americans, 2 Hispanics, and 2 Asians). Participants underwent a skin exam and answered a survey on medical history and lifestyle factors. Comparison of skin exam findings did not show statistically significant differences in photoaging, chronological aging, non-acne scars, acne scars, or striae. Cases had higher Beighton scores for joint hypermobility (p1⁄40.050). Survey results showed that perceived bruise healing time is longer for cases than controls (p1⁄40.026). Additional complaints more common in cases included flat feet (p1⁄40.016), scoliosis (p1⁄40.006), thin limbs (p1⁄40.031), “double-jointedness” (p1⁄40.016), and blue sclera (p1⁄40.001). Notably, cases reported seeing a dermatologist less frequently than controls (p1⁄40.011). While our study was limited in size, given the rareness of OI, the data provide useful insight into the dermatological issues for this patient group. 149 Predictors of actinic keratosis count JA Siegel, AJ Luber and MAWeinstock 1 VA Med Ctr, Providence, RI and 2 Brown Univ, Providence, RI Actinic keratoses (AKs) are frequently treated in the U.S., impacting an estimated 40 million people in 2004 and costing over $1 billion annually. AKs are a major public health concern because of their high prevalence, substantial cost, and potential for malignant transformation to keratinocyte carcinoma (KC). In this analysis, predictors of AK count were explored using pre-randomization baseline data from two large randomized controlled trials of veterans with two or more KCs in the past 5 years (n1⁄4932 and n1⁄41131). Multivariate analyses were conducted to elucidate associations between AK count and several demographic and health related factors. Increased AK count was strongly associated (p<0.01) with older age, history of 5-flurouracil use, low latitude, and greater sun sensitivity (based on natural hair color, ability to burn, and ability to tan at age 18, as well as current untanned skin color). Greater AK count was also strongly associated with higher numbers of prior KCs, specifically invasive squamous cell carcinoma (SCC), followed by SCC in situ, followed by basal cell carcinoma (BCC). Additionally, baseline AK count on the left side of the face and left ear was significantly higher than baseline AK count on the right side of the face and right ear (p<0.001), which may be explained by increased UV radiation to the left side while driving. These results not only confirm that AKs are associated with chronic sun-damage, but also highlight the relationship between AKs and KCs independent of susceptibility to UV damage. While the relationship between AKs and SCCs is well established, the association of prior BCCs with increased AK count highlights the importance of increased vigilance for all KCs in patients with many AKs, regardless of sun exposure and susceptibility. Recognizing predictors of AK count in individuals at high risk for KC may also help providers tailor AK prevention and treatment efforts. This may in turn lower the risk of KC—perhaps a more important goal—as the keratinocytic dysplasia that gives rise to malignancy, and sometimes appears as an AK, is what actually threatens patient health.