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.

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...

Pseudoxanthoma elasticum is a rare autosomal recessive disease, which is well-known for its affection of three major organ systems: skin, eye and cardiovascular systems, in particular large elastic arteries. This case is one of the first demonstrations of microvascular alterations in patients Pseudoxanthoma elasticum and offers hypotheses for their explanation.

A 68-year-old woman developed acute pulmonary edema due to severe acute aortic valvular regurgitation. At the time of emergency surgery, it turned out to result from spontaneous avulsion of the aortic valve commissure. Later, the patient was diagnosed to have pseudoxanthoma elasticum based on typical skin lesions. Connective tissue abnormalities associated with pseudoxanthoma elasticum might ha...

abstract pseudoxanthoma elasticum is a rare, hereditary, multisystemic disease affecting the skin, eye, and cardiovascular system. renal involvement is uncommon. we describe two cases of pseudoxanthoma elasticum (pxe) in two women with distinctive skin lesions and nephrocalcinosis that renal ultrasonography showed a characteristic pattern of dotted increased echogenicity in the corticomedullary...

  Abstract   Pseudoxanthoma elasticum is a rare, hereditary, multisystemic disease affecting   the skin, eye, and cardiovascular system. Renal involvement is uncommon.   We describe two cases of pseudoxanthoma elasticum (PXE) in two women with   distinctive skin lesions and nephrocalcinosis that renal ultrasonography showed a   characteristic pattern of dotted increased echogenicity in the cort...

Booij JC, Baas DC, Beisekeeva J, Gorgels TG & Bergen AA (2010): The dynamic nature of Bruch’s membrane. Prog Retin Eye Res 29: 1–18. Finger RP, Charbel Issa P, Schmitz-Valckenberg S, Holz FG & Scholl HN (2011): Longterm effectiveness of intravitreal bevacizumab for choroidal neovascularization secondary to angioid streaks in pseudoxanthoma elasticum. Retina 31: 1268–1278. Gliem M, De Zeaytijd J...

A 40-year old female came with complaints of headache for 5 days. Her general examination and vitals were within normal limits. On complete ophthalmic we found there are irregular streaks radiating from disc in the fundus both eyes suggesting angioid streaks. We did a dermatological evaluation view increased stretchability skin papules over neck & thigh diagnosed as pseudoxanthoma elasticum...

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 is a rare, hereditary, multisystemic disease affecting the skin, eye, and cardiovascular system. Renal involvement is uncommon. We describe two cases of pseudoxanthoma elasticum (PXE) in two women with distinctive skin lesions and nephrocalcinosis that renal ultrasonography showed a characteristic pattern of dotted increased echogenicity in the corticomedullary junction...