Asymptomatic esophageal varices in a case of pseudoxanthoma elasticum

Pseudoxanthoma Elasticum: A Report of Three Cases in a Family

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.

Pseudoxanthoma elasticum

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...

Pseudoxanthoma elasticum

Arms Lift in a Case of Pseudoxanthoma Elasticum

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...

Exogenous pseudoxanthoma elasticum: a new case in an old farmer.

Moreover, typical bullous lesions on erythematous skin were Sir, observed on his upper limbs. Mucosae were not involved. Family Pseudoxanthoma elasticum (PXE) is a generalized disorder of history was negative for PXE. Ophthalmological examinations and the connective tissue, characterized by an involvement of the echocardiogram were normal and routine laboratory tests, including cardiovascular s...