ocular presentation of pseudoxanthoma elasticum

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

Ophthalmologic manifestations of pseudoxanthoma elasticum

Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.

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...

Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome).

Pseudoxanthoma elasticum (PXE) is a rare disorder of elastin which primarily involves the skin, cardiovascular system, and eyes, but also manifests in the central nervous system, skeleton, and gastrointestinal tract. Rigall first described the cutaneous lesions of PXE in 1881 and thought the disorder was akin to the xanthomatoses. In 1896, Darier2 showed the typical histological changes in elas...