A novel ABCC6 variant causative of pseudoxanthoma elasticum
Sign Up to like & getrecommendations! Published in 2019 at "Human Genome Variation"
DOI: 10.1038/s41439-019-0062-x
Abstract: Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of ABCC6 revealed a novel… read more here.
Keywords: pseudoxanthoma; pseudoxanthoma elasticum; novel abcc6; abcc6 variant ... See more keywords
A stalactite in the aorta. Abnormal calcification in a patient with pseudoxanthoma elasticum
Sign Up to like & getrecommendations! Published in 2017 at "Acta Cardiologica"
DOI: 10.1080/00015385.2017.1281555
Abstract: Received on 1 February 2016; accepted for publication 8 February 2016. Pseudoxanthoma Elasticum (PXE) is a rare, inherited (autosomal recessive) disease with a prevalence of 1 in 25,000-100,000. It is a multisystem disorder caused by… read more here.
Keywords: aorta abnormal; abnormal calcification; stalactite aorta; pseudoxanthoma elasticum ... See more keywords
Two cases of periumbilical perforating pseudoxanthoma elasticum with dermoscopic and histopathologic features
Sign Up to like & getrecommendations! Published in 2020 at "Australasian Journal of Dermatology"
DOI: 10.1111/ajd.13243
Abstract: Periumbilical perforating pseudoxanthoma elasticum is a rare acquired disorder, whose classification is still debatable. It may be a localised cutaneous variant type of pseudoxanthoma elasticum (although it may affect internal organs) or a separate disease… read more here.
Keywords: periumbilical perforating; pseudoxanthoma elasticum; perforating pseudoxanthoma; two cases ... See more keywords