Skin in Osteogenesis Imperfecta

The normal structure of skin consists of the epidermis, dermis and subcutaneous fat; these layers protect us from external insults and maintain internal homeostasis. In osteogenesis imperfecta (OI), the normal structure and function of skin are disrupted. Cutaneous manifestations of OI include thinness, translucency, easy bruisability, impaired elasticity and elastosis perforans serpiginosa (EPS). The pathophysiology of OI involves mutations in genes encoding α-chains of type I collagen, the main component of the dermis. Deficiencies in the quantity and structure of collagen are confirmed by histopathologic studies and lead to various presentations of OI. The wide differential for the dermatologic features of OI includes chronologic aging, photoaging, steroid-induced atrophy and other connective tissue diseases. Management of cutaneous symptoms of OI involves gentle skin care, sun protection, off-label use of topical retinoids and targeted treatments for EPS and hyperhidrosis. Future studies are required to determine the efficacy of dermatologic interventions in OI-associated skin conditions.