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This abstract is assigned to session Poster session in O'Bistro
Presentation typeOB - oral
TitlePseudoxanthoma elasticum confirmed by genetic analysis but not by skin biopsy
PurposeIn patients diagnosed with angioid streaks additional investigations are useful to identify underlying systemic disease unless age and short peripapillary streaks are indicative of senile streaks as an isolated abnormality. In middle-aged or young adults with angioid streaks and no obvious systemic disease, β-thalassemia and pseudoxanthoma elasticum (PXE) are to be searched for. Fundus changes in β-thalassemia and PXE are fairly similar, but in contrast to β-thalassemia, retinal vessel tortuosity is absent in PXE and comet tail lesions can be observed. This allows making a presumed clinical diagnosis of PXE based on extensive angioid streaks, peau d’orange, crystalline bodies and comet tail lesions. The hemoglobulinopathy in β-thalassemia is easily diagnosed with blood screening. For confirmation of PXE the gold standard is dermatologic examination and skin biopsy, but since the last decade molecular diagnosis is also available.
MethodsCase report of a patient with ocular lesions suggestive of PXE and PXE confirmed by genetic analysis but not by skin biopsy.
Resultsrecently, we identified PXE in a 42-year-old patient who presented with angioid streaks-associated neovascularization, peau d’orange, and crystalline bodies. Hemoglobinopathy was excluded. He had no PXE-associated skin lesions and a skin biopsy was not indicative of PXE. However, genetic analysis showed a compound heterozygote mutation in the ABCC gene (a 3413G>A mutation and a 3389C>T mutation).
ConclusionExceptionally, molecular diagnosis of PXE can be made in patients with apparently normal skin and negative skin biopsies, as demonstrated in this case and in another case published in 2011 (GMS Ophthalmol Cases).
Authors 1
Last nameVAN LOEY
DepartmentUZ Leuven
Authors 2
Last nameLEYS
DepartmentUZ Leuven
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