LAUSR

Introduction: Pseudoxanthoma Elasticum (PXE), also called Gronblad-Strandberg syndrome, is an autosomal recessive disorder due to mutation in the ABCC6 allele on chromosome 16p. It is characterized by the progressive fragmentation and calcification of elastin fibers of the dermis, blood vessels, and Bruch’s membrane of the eye. In this article, the authors present a case of PXE with cutaneous elastorrhexis. Case Presentation: A 31-year-old female presented with skin changes in the form of yellowish linearly arranged papules over the lateral side of the neck and anterior abdomen since adolescence. Her retinoscopy and cardiovascular examinations were reported as normal. The molecular analysis could not be done due to financial limitations. Based on these findings, the patient was suspected of PXE according to the revised criteria for the diagnosis of PXE. Conclusions: Skin lesions are generally first to appear in adolescence. Ocular findings develop at later ages, i.e., third or fourth decades. Cardiovascular manifestations develop later in life. Hence, skin changes can aid in the early diagnosis of PXE and help clinicians to screen patients for systemic complications. Being a multisystem heritable disorder with morbidity and mortality, there is a need to formulate the clinical criteria for definitive diagnosis in resource-poor settings where molecular assays cannot be performed. The recognition of typical skin lesions can aid in the accurate diagnosis to facilitate the early detection and management of life-threatening systemic complications.