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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
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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.

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