Unveiling the mystique: pseudoxanthoma elasticum case report

B. Birundha, Department of Pathology, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission’s Research Foundation, Pondicherry, India Jeya Shambavi, Department of Pathology, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission’s Research Foundation, Pondicherry, India N. Swapna, Department of Pathology, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission’s Research Foundation, Pondicherry, India

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder of autosomal recessive inheritance affecting the skin, eyes, and cardiovascular system. We report a case of 17-year-old female with well-defined reticulated, skin-colored plaques over the anterior aspect and in nape of the neck. Punch biopsy from the lesion revealed benign stratified squamous lining with the middle and lower thirds of the dermis showing fragmented and calcified basophilic elastic fibers amidst collagen bundles. Adjacent areas show dense lymphocytic infiltration and giant cell reaction. Verhoff Von Gieson stains showed black-colored fragmented elastic fibers. Ocular examination revealed peau d’ orange appearance of retinal blood vessels, which was considered as the early stage of retinal involvement. PXE is currently an incurable disease that on early diagnosis can prevent the Ocular and cardiovascular complications.

Keywords: Autosomal recessive. Elastic fibers. Pseudoxanthoma elasticum.