Pseudoxanthoma elasticum

Definition:

Pseudoxanthoma elasticum (PXE) is a multisystem genetic disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes have been reported.

References:

[1]. Arthur A B Bergen, et al. ABCC6 and pseudoxanthoma elasticum. Pflugers Arch. 2007 Feb;453(5):685-91. [Content Brief]

[2]. Athanasios Aessopos, et al. Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. Blood. 2002 Jan 1;99(1):30-5. [Content Brief]

[3]. Qiaoli Li, et al. Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol. 2009 Feb;174(2):534-40. [Content Brief]

[4]. Qiaoli Li, et al. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol. 2009 Jan;18(1):1-11. [Content Brief]

[5]. S Schön, et al. Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. J Med Genet. 2006 Sep;43(9):745-9. [Content Brief]

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