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Article

Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum Patients

Department of Life Sciences, University of Modena and Reggio Emilia, Via Campi, 287, 41125 Modena, Italy
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Author to whom correspondence should be addressed.
Academic Editor: Gilles Kauffenstein
J. Clin. Med. 2021, 10(3), 500; https://doi.org/10.3390/jcm10030500
Received: 29 December 2020 / Revised: 25 January 2021 / Accepted: 27 January 2021 / Published: 1 February 2021
(This article belongs to the Special Issue Pseudoxanthoma Elasticum Pathophysiology, from Clinic to Bench Side)
Background: 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. Methods: 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 evaluate p-SMAD 1/5/8 and p-SMAD 2/3 expression and localization. Results: In clinically unaffected skin, fragmented elastic fibers were prevalent, whereas calcified fibers were only rarely observed at the ultrastructural level. p-SMAD1/5/8 and p-SMAD2/3 were activated in both affected and unaffected skin. Conclusion: These findings further support the concept that fragmentation/degradation is necessary but not sufficient to cause calcification of elastic fibers and that additional local factors (e.g., matrix composition, mechanical forces and mesenchymal cells) contribute to create the pro-osteogenic environment. View Full-Text
Keywords: calcification; degradation; elastic fibers; electron microscopy; mesenchymal cells; SMAD calcification; degradation; elastic fibers; electron microscopy; mesenchymal cells; SMAD
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MDPI and ACS Style

Boraldi, F.; Lofaro, F.D.; Losi, L.; Quaglino, D. Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum Patients. J. Clin. Med. 2021, 10, 500. https://doi.org/10.3390/jcm10030500

AMA Style

Boraldi F, Lofaro FD, Losi L, Quaglino D. Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum Patients. Journal of Clinical Medicine. 2021; 10(3):500. https://doi.org/10.3390/jcm10030500

Chicago/Turabian Style

Boraldi, Federica, Francesco Demetrio Lofaro, Lorena Losi, and Daniela Quaglino. 2021. "Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum Patients" Journal of Clinical Medicine 10, no. 3: 500. https://doi.org/10.3390/jcm10030500

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