Autosomal dominant pseudoxanthoma elasticum.
نویسنده
چکیده
very severe choroidoretinitis, often complicated by blindness. Dominant type II PXE, on the other hand, is a much milder form of the disease, with a macular rash (though identical histological changes), no vascular changes, and a very mild retinal degeneration, which does not progress to either blindness or choroidoretinitis. Younger members of these families often have prominent choroidal vessels. Formal analysis of the two pedigrees and all the pooled genetic data supported the autosomal dominant transmission of both these traits.
منابع مشابه
A Case of Pseudoxanthoma Elasticum with Microvascular Alterations: Possible Explanations and Causes
Pseudoxanthoma elasticum is a rare autosomal recessive disease, which is well-known for its affection of three major organ systems: skin, eye and cardiovascular systems, in particular large elastic arteries. This case is one of the first demonstrations of microvascular alterations in patients Pseudoxanthoma elasticum and offers hypotheses for their explanation.
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Pseudoxanthoma elasticum (PXE) is a classic inherited disorder of the elastic tissue characterized by progressive calcification of elastic fibers with a pathognomonic histological appearance. The clinical manifestations of PXE typically involve the skin, the eye and the cardiovascular system, resulting in skin lesions, decreased vision and vascular disease. Clinically, a more common autosomal r...
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Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which is highly expressed in the kidneys and liver...
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Pseudoxanthoma Elasticum is an inherited disorder characterized by generalized fragmentation and progressive calcification of the elastic tissues in the dermis, blood vessels and Bruch’s membrane of the eye. Herein, we report 3 patients in a family with pseudoxanthoma elasticum: a father and his two sons.
متن کاملDoes autosomal dominant pseudoxanthoma elasticum exist?
UNLABELLED Pseudoxanthoma elasticum (PXE) is a progressive disorder of elastic fibers in skin, eyes, and arterial walls. It is caused by mutations in the ABCC6 gene. Most patients are sporadic cases. The majority of familial cases show autosomal recessive (AR) inheritance, but autosomal dominant (AD) inheritance has also been reported. We reviewed the literature on AD PXE and we studied in deta...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 11 2 شماره
صفحات -
تاریخ انتشار 1974