Visual loss and presumed pseudoxanthoma elasticum confirmed with genetic analysis but not with skin examination and biopsies

Objective: Case report of a patient with angioid streaks, peau d’orange, comet tail lesions, choroidal neovascularisation and presumed pseudoxanthoma elasticum (PXE). PXE was confirmed by gene analysis but not by skin biopsies. Methods: Case report of a patient with angioid streaks identified at age 21 and follow-up till age 43 with repeated fluorescein angiography (FA) and optical coherence tomography (OCT). Dermatologic examination, skin biopsies and genetical analysis performed to confirm suspected diagnosis of PXE. Results: At age 43, no specific skin lesions were identified and 3 biopsies could not confirm PXE. Genetic analysis showed a homozygous mutation in the ABCC6 gene and confirmed the diagnosis of PXE. Conclusions: This case illustrates that in patients with angioid streaks having strong ocular indicators of PXE, confirmation of PXE can be obtained not only with dermatologic examination and skin biopsies, but also with genetic analysis. PXE associated mutations can be detected occasionally in biopsy negative patients and for this reason are extremely helpful in confirming a suspected diagnosis.