- Pseudoxanthoma elasticum
- : (Abbreviated PXE). A genetic disorder of elastic fiber degeneration with tiny areas of calcification in the skin, back of the eyes (retinae), and blood vessels. PXE is inherited from the parents, either as an autosomal recessive or as an autosomal dominant trait. PXE typically causes yellow-white small raised areas in the skin folds, often appearing in the second or third decades of life. These skin abnormalities frequently appear on the neck, armpits, and other areas that bend a great deal (referred to as flexure areas). The face is not affected by PXE. The doctor can often see abnormalities in the back of the eye (retinae) called angioid streaks, which are tiny breaks in the elastin-filled tissue there. These eye abnormalities can lead to blindness. Other areas that can be affected in PXE include the heart which can be affected by atherosclerosis and mitral valve prolapse. Small blood vessels are abnormally fragile in patients with PXE because the blood vessel walls contain elastin and are weakened. This can lead to abnormal bleeding in such areas as the bowel and, very rarely, the uterus. Impairment of circulation to the legs can lead to pains in
* * *An inherited disorder of connective tissue characterized by slightly elevated yellowish plaques on the neck, axillae, abdomen, and thighs, developing in the second or third decade, associated with angioid streaks of the retina and similar elastic tissue degeneration and calcification in arteries; autosomal dominant and autosomal recessive types have been described, with much milder systemic complications in the latter.
* * *pseu·do·xan·tho·ma elas·ti·cum .süd-ō-zan-'thō-mə-i-'las-ti-kəm n a chronic degenerative disease of elastic tissues that is marked by the occurrence of small yellowish papules and plaques on areas of abnormally loose skin
* * *a hereditary disease in which elastic fibres (see elastic tissue) become calcified. The skin becomes lax and yellowish nodules develop in affected areas; this is accompanied by degenerative changes in the blood vessels and angioid streaks in the retina.
* * *pseu·do·xan·tho·ma elas·ti·cum (soo″do-zan-thoґmə e-lasґtĭ-kəm) an inherited disorder usually appearing after puberty with skin, eye, and cardiovascular manifestations, most of which result from basophilic degeneration of elastic tissue; it is usually an autosomal recessive disorder caused by mutation in the ABCC6 gene (locus: 16p13.1), which encodes a transmembrane transporter important in elastic fiber assembly; some pseudodominance may also occur. Symptoms include small yellow cutaneous macules and papules that merge to form plaques, mainly in flexural areas; lax, inelastic, redundant skin; angioid streaks in the retina; arterial insufficiency in the lower limbs; premature calcification of peripheral arteries; reduced arterial pulses; symptoms of coronary insufficiency, hypertension, and mitral valve prolapse; and gastrointestinal and other hemorrhages. Called also nevus elasticus.
Medical dictionary. 2011.