What is the prevalence of cutis hyperelastica (Ehlers-Danlos syndrome)?

Updated: Jan 30, 2020
  • Author: Ginard I Henry, MD; Chief Editor: Gregory Gary Caputy, MD, PhD, FICS  more...
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Answer

This entity is common to contortionists in that the hyperelasticity and flexibility of the skin and joints permit the achievement of grotesquely exaggerated positions. [38] There are numerous types of Ehlers-Danlos syndrome with inheritance patterns including autosomal dominant, autosomal recessive and X-linked recessive. Depending on the type, defects in these patients include defects in collagen 5, collagen 3, lysyl hydroxylase (thereby preventing cross-linkage), or the procollagen-N -peptidase enzyme deficiency (impairing the aggregation of collagen fibers) among others.


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