Skin symptoms and their impact on quality-of-life in adults with osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a genetic connective tissue disorder caused by abnormalities in type I collagen, which is abundant in skin. Yet, data on dermatologic manifestations and their impact on quality-of-life (QOL) are limited. This study evaluated the prevalence of skin symptoms in adults with OI compared with adults without OI and assessed their effect on QOL. In this cross-sectional, survey-based study, adults with OI were recruited via US and European OI foundations, and comparators were recruited from an Oregon Health & Science University research registry. Participants completed a 20-item skin symptom questionnaire; those reporting bothersome or itchy skin also completed validated QOL instruments (Skindex-29 and ItchyQoL). Group and severity-stratified comparisons were analyzed using t-tests, chi-square tests, and analysis of variance (P < .05). A total of 821 surveys were analyzed (547 OI). Adults with OI reported significantly more skin symptoms than comparators, most commonly easy bruising (78%), dry skin (72%), and excessive sweating (66%). Women with OI reported more symptoms than men. Queries about QOL revealed that over half of OI participants reported bothersome skin, with higher Skindex-29 and ItchyQoL scores than comparators. Symptom prevalence also varied by OI severity: severe OI was associated with pruritus and rashes, while mild OI was associated with bruising and fragile nails. Skin symptoms are a common and clinically meaningful extra-skeletal manifestation of OI. Differences in skin symptoms may be influenced by sex, age, and OI subtype, highlighting the need for further studies as recognition of these dermatologic manifestations may guide targeted management.