Show Summary Details
Page of

Inherited defects of connective tissue: Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum 

Inherited defects of connective tissue: Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum
Chapter:
Inherited defects of connective tissue: Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum
Author(s):

N.P. Burrows

DOI:
10.1093/med/9780198746690.003.0467
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 02 March 2021

The inherited disorders of connective tissue are all conditions in which structural defects in collagen or other extracellular matrix proteins lead to its fragility, with the commonest sites of involvement being the skin, ligaments, vasculature, and hollow organs. These include Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum. This chapter first examines Ehlers–Danlos syndrome, which is a heterogeneous group of disorders resulting from abnormalities in collagen synthesis and processing, or of other extracellular matrix proteins. They can be classified on the basis of descriptive clinical phenotype and/or underlying molecular cause. Most cases are autosomal dominant, but 30–50% may be sporadic. It then looks in detail at other disorders of the connective tissues, such as Marfan’s syndrome and pseudoxanthoma elasticum, including their presentations, diagnosis, treatment, and possible outlook.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.