Elastosis Dystrophica Syndrome

Elastosis Dystrophica Syndrome

Article
Eye & Vision
Digestive Health
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Contributed byMaulik P. Purohit MD MPHOct 20, 2020

The topic Elastosis Dystrophica Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Pseudoxanthoma Elasticum.

Quick Summary:

  • Pseudoxanthoma Elasticum (PXE) is a genetic, inherited, systemic connective tissue disorder, which affects the elastic tissue of the skin, eyes, gastrointestinal (digestive tract), and the cardiovascular system (heart and blood vessels)
  • The connective tissues provide strength and flexibility to various structures in the body. PXE is a progressive disorder in which calcium and other minerals deposits accumulate in the elastic fibers, which form part of the connective tissues. This leads to degeneration or fragmentation of the elastic fibers in certain organs (skin, eyes, blood vessels, etc.)
  • In Pseudoxanthoma Elasticum, mutations occur in the ABCC6 gene. Though both autosomal dominant and recessive pattern of inheritance are seen, most cases are inherited in an autosomal recessive manner (in which both copies of the genes from the parents have to be mutated to develop this disease)
  • Any individual can be affected by this disorder, but it has been observed that females are affected twice as much as males
  • The condition is treated through lifestyle changes, medications, and surgery if required. The majority of the patients with Pseudoxanthoma Elasticum have normal life expectancy, if symptoms and complications of the condition are managed appropriately

Please find comprehensive information on Pseudoxanthoma Elasticum regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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