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Pseudoxanthoma Elasticum

Background

Pseudoxanthoma Elasticum (PXE) is a rare inherited disorder of connective tissue mainly affecting the skin and the eye. It is thought that PXE affects about 1 in 25,000 to 100,000 people. PXE is known in all ethnic groups but in a female-to-male ratio of 2 to 1. Although onset can be infancy up to old age, the average age of onset is in adolescence.

Connective tissue forms the supporting and connecting structures of the body. It is formed of collagen and elastin. In PXE the elastic fibres in the skin, the retina and the blood vessels degenerate and calcify.

What are the symptoms? View What are the symptoms?

Medical text written December 2005 by Contact a Family. Approved December 2005 by Dr C Moss, Consultant Paediatric Dermatologist, Head of Dermatology Department, Birmingham Children's Hospital, Birmingham, UK and Mr S Kheterpal, Consultant Ophthalmic Surgeon, Prince Charles Eye Unit, King Edward VII Hospital, Windsor, UK.

 

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