Pseudoxanthoma elasticum (Gronblad-Strandberg syndrome).

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...

Gronblad Strandberg syndrome with vertibrobasilar dolichoectasia.

The constellation of pseudoxanthoma elasticum, ocular involvement and vascular disturbances is termed Gronblad Strandberg syndrome. Pseudoxanthoma elasticum is a genetic disorder characterized by progressive calcification and fragmentation of elastic fibres in the skin, retina and the cardiovascular system. Typically the cutaneous lesions begin in childhood, but because of their asymptomatic na...

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

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...