Pseudoxanthoma elasticum: An Update

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Abstract
Pseudoxanthoma elasticum (PXE) is an inherited disorder of elastic tissue with many systemic manifestations. The disease varies widely in its degree of expression and inheritance patterns and is believed to be considerably underdiagnosed due to lack of familiarity with the condition among physicians. The purpose of this article was to provide an update on important topics in PXE. Common presentations of the disease as well as the histopathology are discussed. The genetics of PXE as well as the importance of early diagnosis and genetic counseling are addressed. Special areas of concern, such as PXE in childhood, are reviewed. Finally, the article concludes with management of the disease and current areas of research.