Pseudoxanthoma elasticum history and symptoms

The clinical manifestation of pseudoxanthoma elasticum usually starts with the skin. Patients may present with features of gastrointestinal bleeding such as melena, hematemesis, frank bleeding or hematuria; cardiovascular manifestation such as angina, intermittent claudication, coronary heart disease or ocular symptoms such as loss of central vision.

Usually, pseudoxanthoma elasticum affects the skin first, with the mean age of 13 years, which usually leads to the diagnosis. The majority of patients with PXE are diagnosed at the age of 22 years, leading to a delay between the first manifestation and first diagnosis of approximately nine years.^[1] Asymptomatic skin changes are usually at the lateral aspect the neck. Patients may also present with symptoms suggestive of gastrointestinal bleeding such as melena, hematemesis, frank bleeding or hematuria. As time progresses, patients experience more cutaneous manifestations and cardiovascular symptoms such as angina pectoris, intermittent claudication, and eventually coronary heart disease. Retinal hemorrhage leading to loss of central vision are usually common after the fourth decade.

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