Case report: Pseudoxanthomaelasticum

Abstract

Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder of autosomal recessive inheritance. It is characterized by progressive mineralization and fragmented, calcified elastic fibres of skin, eye and cardio-vascular system (CVS). It is due to the loss of functional mutation ABCC6 gene.We report such a rare case of PXE with earliest skin manifestation and with no other ophthalmological and CVS findings.This is a case report of 26 years old female complaining of 1 year history of asymptomatic yellow-orange raised lesions on right lateral side of neck.On clinical examination, yellow-orange micro-papules coalescing to form plaques were noticed over right lateral side of neck. Fundoscopy revealed bilateral myopic degenerative changes with no other specific findings. Histopathology of said lesions showed atrophic epidermis with abnormal elastic fibres in the mid-dermis confirming the diagnosis. Course and prognosis were explained to the patient and she was advised regular follow-up.PXE is rare in occurrence, with no definite and effective treatment. It has a good prognosis if retinal and cardio-vascular complications are regularly monitored and prevented.