<\/span><\/h2>\nElastic pseudoxanthoma (PXE) is the name given to a group of connective tissue<\/span> disorders that affect the elastic tissue of the skin, blood vessels<\/span>and the eyes. PXE is also known as Gronblad-Strandberg syndrome<\/span>.<\/p>\n\n<\/span>Elastic pseudoxanthoma<\/span><\/h5>\n<\/section>\n\n\n
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Elastic pseudoxanthoma of antecubital fossa<\/p>\n
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<\/span>What is the cause of elastic pseudoxanthoma?<\/span><\/h2>\nThe basic flaw in PXE seems to be related to genetic<\/span> abnormalities in chromosome<\/span> 16p13.1. The disease involves the transporter. genes<\/span> MRP6 or ABCC6 in at least some affected families. There is good evidence that collagen<\/span> and soil substance<\/span> they are abnormal in affected individuals. Calcium accumulates abnormally elastic fibers<\/span> on the skin, blood vessels, eyes and heart.<\/p>\nPXE affects about 1 in 160,000 people. There are several PXE subtypes, each with a slightly different clinical presentation and inheritance pattern. Two are inherited as one autosomal<\/span> dominant characteristic; This means that half of the children of an affected individual are affected. Three types of PXE are autosomal recessive<\/span>, in which 1 in 4 children are affected.<\/p>\n\n
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<\/span>Clinical characteristics of elastic pseudoxanthoma<\/span><\/h2>\nPeople with PXE have distinctive skin lesions, changes in blood vessels, and eye abnormalities. These may vary in distribution<\/span> and severity<\/p>\n<\/span>Skin lesions<\/span><\/h3>\nPXE skin lesions are characteristic. They consist of small yellowish bumps in rows or a lace pattern, which can join together to form large patches. The skin is soft, loose and slightly wrinkled. The patches may have a slightly stony appearance, which has been described as cobblestone.<\/p>\n
The common sites affected in PXE are the sides of the neck, below the clavicles, armpits, abdomen, groin, perineum<\/span> and thighs<\/p>\nThese skin changes can develop in childhood, but generally develop in early adulthood (before age 30). They can, in some cases, appear for the first time in old age. Once they appear, they generally persist without change indefinitely.<\/p>\n
Similar changes can occur in the soft palate, inside the lips and lining of the stomach, rectum, and vagina.<\/p>\n
<\/span>Heart and blood vessels<\/span><\/h3>\nThe connective tissue in the arteries of the heart and throughout the body are abnormal in elastic pseudoxanthoma. This can cause leg pain when walking (claudication<\/span>), stroke, heart pain (angina pectoris<\/span>) and cardiomyopathy<\/span> (heart muscle disease). Mitral valve prolapse occurs in approximately 5 to 8% of cases.<\/p>\n<\/span>Eye<\/span><\/h3>\nVascular<\/span> Injuries known as angioid streaks affect the retina of most PXE patients. They usually appear between 20 and 40 years old. Angioid streaks can lead to progressive<\/span> visual failure and occasionally blindness.<\/p>\n<\/span>Obstetric risk associated with elastic pseudoxanthoma<\/span><\/h2>\nPXE patients are at increased risk of miscarriage in the first three months of pregnancy. Stretch marks develop during pregnancy in virtually all patients.<\/p>\n
<\/span>Elastic acquired pseudoxanthoma<\/span><\/h2>\nThere have been occasional reports of late start or acquired PXE. <\/p>\n
\n- The acquired PXE has been associated with the drug penicillamine.<\/li>\n
- Some cases have followed liver transplant<\/span>.<\/li>\n
- It has also been reported in patients with beta thalassemia.<\/li>\n<\/ul>\n
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<\/span>How is elastic pseudoxanthoma diagnosed?<\/span><\/h2>\nDiagnosis of PXE is usually straightforward on the skin. biopsy<\/span>. the pathology<\/span> PXE is characteristic.<\/p>\nImaging studies are done to determine its effect on the blood vessels and the heart.<\/p>\n
<\/span>What is the treatment for elastic pseudoxanthoma?<\/span><\/h2>\nThe most important aspect of treatment is to ensure that complications from blood vessel<\/span> participation is prevented or promptly treated by the appropriate specialist. Regular follow-up with a specialist vascular surgeon and \/ or cardiologist is recommended.<\/p>\n\n- There is currently no effective treatment for skin lesions.<\/li>\n
- Dietary calcium restriction has been proven with some benefit, but this is controversial.<\/li>\n
- \nTo be<\/span> Photocoagulation can be helpful in preventing further bleeding from the back of the eye.<\/li>\n
- Since there is a risk of passing this condition on to the next generation, genetic counseling may be helpful.<\/li>\n<\/ul>\n<\/section>","protected":false},"excerpt":{"rendered":"
\u00bfQu\u00e9 es el pseudoxantoma el\u00e1stico? Pseudoxantoma el\u00e1stico (PXE) es el nombre dado a un grupo de tejido conectivo trastornos que afectan el tejido el\u00e1stico de la piel, vasos sanguineosy los…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[],"tags":[],"class_list":["post-8271","wiki","type-wiki","status-publish","format-standard"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/8271","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=8271"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/8271\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=8271"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=8271"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=8271"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}