The Mechanical Properties of Skin in Osteogenesis Imperfecta

Open Access
Publisher Website
Google Scholar
Abstract
QUANTIFICATION IS of great help in the evidence-based clinical management of disease. Classification of disease denotes its genetic, anatomical, and molecular levels, while quantification of disease assists in the clinical management of its severity, risks, and prognosis. Osteogenesis imperfecta (OI) is a well described disease involving the major connective tissues of the body, such as bone, skin, cartilage, and blood vessels. Osteogenesis imperfecta causes a generalized decrease in bone mass (osteopenia and bone brittleness).1 The disorder is frequently associated with blue sclerae, dental abnormalities (dentinogenesis imperfecta), progressive hearing loss, and a positive family history. Most patients with OI have several deletions, insertions, and point mutations in 1 of 2 structural genes coding for type I procollagen.2 The same mutation, however, does not always produce the same disease phenotype in terms of severity of the condition or its clinical course.3 In families with OI, some members are clinically severely affected, whereas others with the identical mutation have only a mild disorder. This study was undertaken to characterize the mechanical properties of the skin in patients with OI and to determine whether they can be used as a functional measure of the underlying abnormality and correlated to disease severity.