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Article

Pseudoxanthoma elasticum and nephrolithiasis.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Mar 2005

Fabre B, Bayle P, Bazex J, Durand D, Lamant L, Chassaing N

Abstract excerpt

We report the case of a 42-year-old man with pseudoxanthoma elasticum (PXE) and recurrent bilateral nephrolithiasis. Diagnosis of PXE was made by yellow papules on the neck and ophthalmologic angioid streaks. This diagnosis was confirmed by a skin biopsy (Von Kossa stain) and by genotyping analysis of ABCC6 (homozygous mutation R1138Q). Nephrolithiasis was recurrent and biological investigations showed...

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Identifiers

PMID: 15752294
DOI: 10.1111/j.1468-3083.2005.01007.x

Genes

ABCC6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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