source: Plastic and Reconstructive Surgery Global Open
Gupta A, Kumar P
Although Hippocrates described the features of Ehlers-Danlos syndrome (EDS), it was named after 2 physicians, viz., Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France, who described it at the turn of the 20th century.1 It is an inherited disorder of collagen biosynthesis and structure in humans. Joint hypermobility, skin extensibility, abnormal scarring, and tissue friability are the hallmark diagnostic features; however, EDS is underrecognized because when the physical signs are not “classic,” the diagnosis may be elusive. The medical and scientific history of EDS can be seen in 3 phases: clinical characterization, biochemical and molecular genetic analysis, and the use of high-throughput genomic analysis to extend the phenotypes. Over the last years, the characterization of several new EDS variants has broadened insights into the molecular pathogenesis of EDS by implicating genetic defects in the biosynthesis of other extracellular matrix molecules, such as proteoglycans and tenascin-X, or genetic defects in molecules involved in intracellular trafficking, secretion, and assembly of extracellular matrix proteins.2 Various types of EDS have been distinguished on clinical and genetic grounds after Villefranche classification, which are not yet incorporated into a coherent classification.
Kasturba Medical College Manipal; King Abdulaziz Specialist Hospital
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