Abstract: A 12-year-old female presented with diffuse yellow plaques on the anterior neck, chest and abdomen for 3 months. Histopathology of skin lesion showed that twisted and broken fibrous tissue focally distributed in the dermis. Immunohistochemical results showed the papule cells positive for CD163, Ki-67 (1%). Specific stain showed positive for Van Gieson, weakly positive for elastic fiber, negative for mesh fiber. Genetic testing revealed a hemigygotic mutation of c.2312del in ABCC6 gene. The patient's parents and family members had no related symptoms. They did not undergo genetic testing, and the origin of the mutation was unknown. According to the clinical manifestations and genetic results, the patient was diagnosed as pseudoxanthoma elasticum, who was not treated and is currently under close follow-up.

Key words: pseudoxanthoma elasticum（PXE）, elastic fibers, gene mutation