Pseudoxanthoma elasticum overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Overview
Pseudoxanthoma elasticum (PXE) is a genetic disease that is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 (16p13.1). PXE causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis.[1]
References
- ↑ Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A (2005). "Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations". J. Med. Genet. 42 (12): 881–92. doi:10.1136/jmg.2004.030171. PMID 15894595.