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Pseudoxanthoma Elasticum

Clinical Genetics Genomics


Pseudoxanthoma Elasticum (PXE) is an autosomal recessive multisystem disorder characterised histologically by ectopic mineralisation and fragmentation of elastic fibres of soft connective tissues such as skin, retina and cardiovascular system. Patients have yellowish skin papules on neck and flexural areas, angioid streaks on retina, retinal haemorrhage, diffuse arteriosclerosis and narrowing of small and medium sized arteries. Skin and eye manifestations occur in adolescence but may appear earlier in childhood. Cardiovascular complications usually develop later in mid-adulthood.

Variants in ABCC6 gene have been identified in 66-97% of patients with PXE (Miksch et al. 2005 Hum Mutat 26: 235-248Vanakker et al. 2008 Hum Mutat 29: 205). A few cases of PXE who also had Generalised Arterial Calcification of Infancy (GACI) have been shown to have mutations in the ENPP1 gene (Nitschke et al. 2012 Am J Hum Genet 90:25-39).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.

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