Unveiling the clinical spectrum of pseudoxanthoma elasticum: A report of two cases
Keywords:
Pseudoxanthoma elasticum, Elastic tissue, Autosomal recessiveAbstract
Pseudoxanthoma elasticum (PXE) is a rare inherited disorder characterized by progressive disintegration as well as calcification of elastic tissue, resulting in cutaneous, ophthalmic, cardiovascular and other systemic abnormalities. It is an autosomal recessive condition caused by alterations in the ABCC6 gene. We report two cases of pseudoxanthoma elasticum with varying degrees of cutaneous and systemic manifestations of the disease. Both patients had characteristic histopathological changes on skin biopsies and fulfilled the diagnostic criteria for definite PXE. The goal is to demonstrate diverse clinical facets of the disease and to emphasize clinical clues for prompt diagnosis in order to minimize the associated complications.References
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