Dermal fibroblasts from pseudoxanthoma elasticum patients have raised MMP-2 degradative potential

Large-Scaled Metabolic Profiling of Human Dermal Fibroblasts Derived from Pseudoxanthoma Elasticum Patients and Healthy Controls

Mutations in the ABC transporter ABCC6 were recently identified as cause of Pseudoxanthoma elasticum (PXE), a rare genetic disorder characterized by progressive mineralization of elastic fibers. We used an untargeted metabolic approach to identify biochemical differences between human dermal fibroblasts from healthy controls and PXE patients in an attempt to find a link between ABCC6 deficiency...

Pseudoxanthoma elasticum-like papillary dermal elastolysis*

An Bras Dermatol. 2017;92(6):891-900. According to the literature, hospitalization is required in some cases, which did not happen in our case because of the early intervention (Table 2).5 Considering a reduced risk of agranulocytosis development and in accordance with Carneiro et al. (2011),5 our aim was not to question DDS therapy for leprosy, but to stimulate clinical awareness of its risks ...

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

Pseudoxanthoma Elasticum Papillary Dermal Elastolysis: A Case Report

PXE-PDE is a rare clinicopathological entity with few cases reported. It affects more often elderly women and is characterized by asymptomatic bilateral and symmetrical yellowish papules localized predominantly on the neck and supraclavicular regions. It is clinically similar to Pseudoxanthoma Elasticum. The authors report a case of a 64-year-old woman presenting asymptomatic, yellowish, non-fo...