Ocular manifestations leading to the diagnosis of pseudoxanthoma elasticum with a novel heterozygous ABCC6 mutation: A Case Report.

Introduction: Pseudoxanthoma elasticum (PXE) is a progressive hereditary disease caused by the calcification and degeneration of elastic fibers, affecting the skin, retina, blood vessels, and gastrointestinal tracts. The gene responsible is the ATP-binding cassette subfamily C member 6 (ABCC6). Case Presentation: A 47-year-old man presented to an ophthalmologist with a right eyelid contusion. Fundus examination revealed right macular hemorrhage and bilateral angioid streaks. PXE was suspected due to skin lesions around the neck and abdomen; he was referred to our dermatology department. Histopathological examination revealed degenerated anucleate elastic fibers with calcification in the mid-dermis. Genetic testing revealed a previously unreported heterozygous ABCC6 mutation. We established a diagnosis of PXE based on characteristic skin lesions and histopathological findings triggered by ocular manifestations. Based on in silico analysis, the ABCC6 gene mutation was predicted to be pathogenic. Conclusion: In some PXE cases, the ABCC6 gene mutation can be undetectable or only one mutation is detected; PXE could be diagnosed based on clinical and histopathological symptoms. When characteristic skin and eye lesions are observed, appropriate evaluation is required. Genetic testing facilitates early diagnosis and the discovery of novel mutations, contributing to a deeper understanding of the disease spectrum.