Abstract
Pseudoxanthoma elasticum is an autosomal recessive genetic disease. Those affected will have fragmentation of elastic fibers in various tissues throughout the body. The prevalence is thought to be about 1:25,000 with a 2:1 female to male predominance.
The most common gastrointestinal (GI) symptoms include:
Recurrent acute gastrointestinal hemorrhages occur in about 13 % of patients
The clinical signs and findings are:
Disease in which elastic fibers become calcified and weak; manifests in the second and third decade
Pseudoxanthoma elasticum also presents with eye lesions (angioid streaks and other degeneration of the retina) and vascular defects, calcification leading to GI bleeds.
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References
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Zakko, L. (2013). Pseudoxanthoma Elasticum: Gastrointestinal Features. In: Wu, G., Selsky, N., Grant-Kels, J. (eds) Atlas of Dermatological Manifestations of Gastrointestinal Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6191-3_27
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DOI: https://doi.org/10.1007/978-1-4614-6191-3_27
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