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Pseudoxanthoma Elasticum



Pseudoxanthoma Elasticum Causes


The condition is caused by certain mutations in the ATP. This mutations result to accumulation of metabolites that affect the retinoids and the elastic fibers of the skin and blood vessels.


Pseudoxanthoma Elasticum Definition


Pseudoxanthoma elasticum is a rare genetic disease that results to the fragmentation and calcification of the skin's fibers as well as the retina and the cardiovascular organs. In this disease, cutaneous lesions start to develop during childhood, but become more prominent during adulthood.


Pseudoxanthoma Elasticum Diagnosis


Pseudoxanthoma elasticum can be diagnosed via echocardiogarphy and CT scan to detect signs of hemmorhage. Radiographs are also used to look for soft-tissue calcification. To detect the disease is quite important so as other problems in the different internal organs can also be diagnosed.


Pseudoxanthoma Elasticum Symptoms and Signs


Patients of the disease experience no symptoms, but once the disease has develop lesions become prominent in different areas of the skin, eyes and blood vessels affecting the urinary tract, pulmonary tissue and the heart.


Pseudoxanthoma Elasticum Treatment


Persons with the disorder often lead normal lives, but antibiotics and vitamin A and E supplements should be administered to help reduce the effects of pseudoxanthoma elasticum.


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