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.
Department of Dermatology, University Hospitals Leuven, Leuven, Belgium.
Carolien
C
Aerts
Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
Christophe
C
De Keyser
Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
Anita
A
Leys
choroidal neovascularization; gene analysis; mutation in ABCC6 gene; pseudoxanthoma elasticum; scar biopsy; skin lesions