Pseudoxanthoma elasticum: Pathognomonic ocular and skin lesions with histopathological confirmation

Abstract

A 34-year-old female presented to us with complaints of decreased vision in her left eye for 1 month. Best-corrected visual acuity was 20/20 in the right eye and 20/60 in the left eye. Anterior segment examination was normal in both the eyes. Fundus examination showed angioid streaks and comet tail lesions in both eyes. The left eye in addition showed a choroidal neovascular membrane (CNVM) at the macula. Systemic examination revealed skin lesions on the neck with a plucked chicken appearance and multiple papules. Biopsy from the lesions provided histopathological confirmation of pseudoxanthoma elasticum (PXE). CNVM in the left eye was treated successfully with a single dose of intravitreal bevacizumab injection with no further recurrence. No cardiovascular association was found in our case. This case report describes the pathognomonic fundus lesions seen in PXE. This case also emphasizes the need for thorough systemic evaluation, including biopsy from skin lesions for histopathological confirmation of the diagnosis in all cases with ocular features of PXE.

Keywords

• angioid streaks
• choroidal neovascular membrane
• comet tail lesions
• pseudoxanthoma elasticum