Pseudoxanthoma Elasticum-Like Phenotypes: More Diseases than One

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-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 ...

Periumbilical perforating pseudoxanthoma elasticum.

A 58-year-old, gravida 6, obese woman presented with a pruritic yellowish plaque around the umbilicus, which first appeared about 3 years ago. She also had flat yellow papules on the axilla and neck. After a burn from a heating device, a few perforating papules and a violaceous hue occurred on the plaque. Histological examination revealed pathological elastic fibers with a keratotic plug and pe...

Autosomal dominant pseudoxanthoma elasticum.

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 vess...