Elastolisis dérmica papilar similar a pseudoxantoma elástico / Papillary dermal elastolysis similar to pseudoxanthoma elasticum

La elastolisis dérmica papilar similar a pseudoxantoma elástico es un trastorno elastolítico caracterizado por lesiones cutáneas en el cuello y en la región supraclavicular que clínicamente se asemejan al pseudoxantoma elástico, sin complicaciones sistémicas. El examen histológico muestra una pérdida de fibras elásticas en la dermis papilar. Comunicamos un caso en una mujer de 76 años con lesiones típicas en el cuello

Papillary dermal elastolysis similar to pseudoxanthoma elasticum is an elastolytic disorder characterized by cutaneous lesions on the neck and in the supraclavicular region that are clinically similar to pseudoxanthoma elasticum, with no systemic complications. The histological examination shows a loss of elastic fibers in the papillary dermis. We report a case in a 76-year-old woman with typical lesions on the neck

Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene, encoding for the membrane transporter MRP6, whose physiological role is still unknown. PXE is characterized by skin, eye, and cardiovascular alterations mainly due to mineralization of elastic fibers. The ultrastructural alterations of a large number of tissues obtained at autopsy from 2 PXE patients were analyzed and compared to clarify the involvement of the various organs in PXE and to identify cell types responsible for clinical manifestations. Ultrastructural alterations typical of PXE were present in all organs examined and consisted mostly of fragmentation and mineralization of a number of elastic fibers, abnormalities of collagen fibril shape and size, and, less frequently, deposition of aggregates of matrix constituents in the extracellular space. The severity of alterations was more pronounced in the organs affected by the clinical manifestations of PXE. Interestingly, veins and arteries were similarly damaged, the adventitia and the perivascular connective tissue being the most affected areas. Therefore, alterations in PXE are systemic and affect all soft connective tissues, even in the absence of specific clinical manifestations. The localization of alterations suggests that fibroblasts and/or smooth muscle cells are very likely involved in the pathogenesis of the disorder. These findings may help in the diagnosis of PXE when clinical manifestations affect internal organs.