Pseudoxanthoma elasticum: Description of a late onset case
نویسندگان
چکیده
منابع مشابه
Pseudoxanthoma elasticum: description of a late onset case.
Pseudoxanthoma elasticum (PXE) is a genetic multisystem disorder characterized by ectopic mineralization of connective tissues with primary manifestations in the skin, retina and cardiovascular system, and a phenotypic spectrum highly variable.This article presents the case of a 46-year-old male patient with sporadic late-onset PXE, without severe systemic complications.
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Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight fem...
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Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder of elastin fibers, characterized by yellowish coalescent papules in flexural surfaces with abnormally lax and corrugated skin. It can be associated to systemic manifestations mostly regarding eyes and vessels. Aesthetic surgery of cutaneous hyperlaxity was described in the international literature only in few cases, mostly as neck lif...
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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.
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology, and Leprology
سال: 2010
ISSN: 0378-6323
DOI: 10.4103/0378-6323.66608