Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum Patients.

ABSTRACT: Pseudoxanthoma elasticum (PXE), due to rare sequence variants in the ABCC6 gene, is characterized by calcification of elastic fibers in several tissues/organs; however, the pathomechanisms have not been completely clarified. Although it is a systemic disorder on a genetic basis, it is not known why not all elastic fibers are calcified in the same patient and even in the same tissue. At present, data on soft connective tissue mineralization derive from studies performed on vascular tissues and/or on clinically affected skin, but there is no information on patients' clinically unaffected skin. Skin biopsies from clinically unaffected and affected areas of the same PXE patient (n = 6) and from healthy subjects were investigated by electron microscopy. Immunohistochemistry was performed to eva

SUBMITTER: Boraldi F 

PROVIDER: S-EPMC7867076 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature