Pseudoxanthoma elasticum: Genetische grundlagen, manifestationen und therapeutische ansätze

Translated title of the contribution: Pseudoxanthoma elasticum

M. S. Ladewig, C. Götting, C. Szliska, P. C. Issa, H. M. Helb, I. Bedenicki, H. P.N. Scholl, F. G. Holz

Research output: Contribution to journalReview article

Abstract

Pseudoxanthoma elasticum (PXE) is an inherited disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vessel walls, and Bruch's membrane. Clinically, patients exhibit characteristic lesions of the skin (soft, ivory-colored papules in a reticular pattern that predominantly affect the neck), the posterior segment of the eye (peau d'orange, angioid streaks, choroidal neovascularizations), and the cardiovascular system (peripheral arterial occlusive disease, coronary occlusion, gastrointestinal bleeding). There is no causal therapy. Recent studies suggest that PXE is inherited almost exclusively as an autosomal recessive trait. Its prevalence has been estimated to be 1:25,000-100,000. The ABCC6 gene on chromosome 16p13.1 is associated with the disease. Mutations within the ABCC6 gene cause reduced or absent transmembraneous transport that leads to accumulation of substrate and calcification of elastic fibers. Although based on clinical features the diagnosis appears readily possible, variability in phenotypic expressions and the low prevalence may be responsible that the disease is underdiagnosed. This review covers current knowledge of PXE and presents therapeutic approaches.

Translated title of the contributionPseudoxanthoma elasticum
Original languageGerman
Pages (from-to)537-553
Number of pages17
JournalOphthalmologe
Volume103
Issue number6
DOIs
StatePublished - Jun 2006

Keywords

  • ABCC6
  • Angioid streaks
  • Choroidal neovascularization
  • Peau d'orange
  • Pseudoxanthoma elasticum (PXE)

ASJC Scopus subject areas

  • Ophthalmology

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  • Cite this

    Ladewig, M. S., Götting, C., Szliska, C., Issa, P. C., Helb, H. M., Bedenicki, I., Scholl, H. P. N., & Holz, F. G. (2006). Pseudoxanthoma elasticum: Genetische grundlagen, manifestationen und therapeutische ansätze. Ophthalmologe, 103(6), 537-553. https://doi.org/10.1007/s00347-006-1353-4