Abstract
Pseudoxanthoma elasticum is a rare genetic syndrome caused by mutation of the ABCC6 gene codifying an ATP-transmembrane transporter protein and characterized by progressive mineralization and fragmentation of elastic fibers in different tissues. Cutaneous lesions, consisting of soft, small, yellowish asymptomatic papules confluent in plaques with cobblestone aspect, often represent the first manifestations of the disease before appearance of ocular and cardiovascular symptoms. Dermatoscopy may enhance the clinical recognition of cutaneous features by showing multiple irregular yellowish areas, some of them coalescing to form parallel strands, alternating with prominent linear vessels.
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Micali, G., Boscaglia, S., Nasca, M.R., Lacarrubba, F. (2018). Pseudoxanthoma Elasticum. In: Micali, G., Lacarrubba, F., Stinco, G., Argenziano, G., Neri, I. (eds) Atlas of Pediatric Dermatoscopy. Springer, Cham. https://doi.org/10.1007/978-3-319-71168-3_26
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DOI: https://doi.org/10.1007/978-3-319-71168-3_26
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