![]() ![]() Because each of these elements contribute to connective tissue structure in a number of different body locations, genetic defects in a single connective tissue component may manifest in more than one organ in the body (pleiotropy). In addition, mutations in genes that affect protein glycosylation are also implicated in the differential diagnosis of connective tissue disorders. Proteins that modify these component elements-such as the metalloproteinases 7 and lysyl hydroxylase 3, which act on the structure of collagen fibers, and homocysteine, which can affect the integrity of fibrillin in elastic tissues-have also been implicated in disorders of connective tissue. The constitution of the normal connective tissue varies from one tissue to another, both in the specific elements-collagen, elastin, fibrillin, fibulin, 6 and others-and in the proportion of each element. Limited text is included to add relevant syndrome-specific information that could not be adequately captured in table format. The accompanying tables will provide the majority of necessary information to develop a thorough differential diagnosis. 2– 5 The aim of this article was to consolidate new clinical and genetic information in an accessible, comprehensive format to aide in the diagnostic evaluation of individuals who have features that may initially raise the possibility of a connective tissue disorder. Molecular genetic discoveries have greatly advanced the ability to correctly classify these disorders, and recent reviews have compared clinical features of subsets of the inherited connective tissue disorders. 1 However, it is less well known that there is an emerging and complex differential diagnosis to be considered for patients evaluated for a possible heritable disorder of connective tissue. Many clinicians have a basic knowledge of Marfan syndrome, a relatively common genetic disorder of connective tissue with clinical manifestations involving the musculoskeletal, cardiovascular, respiratory, ophthalmologic, and cutaneous systems. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |