Clinical phenotypes and ABCC6 gene mutations in brazilian families with pseudoxanthoma elasticum.

Authors

Caroline Silvério Faria, Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil
Qiaoli Li, Thomas Jefferson UniversityFollow
Haitao Guo, Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson UniversityFollow
Jouni Uitto, Thomas Jefferson UniversityFollow
Sylvia Satomi Takeno, Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil
Marilia de Arruda Cardoso Smith, Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil
Dertia Villalba Freire-Maia, Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil

Document Type

Article

Publication Date

11-2013

Comments

This article is the final published version in Acta Dermato-Venereologica Volume 93, Issue 6, November 2013, Pages 739-740.

The published version is available at DOI: 10.2340/00015555-1570. Copyright © Society for Publication of Acta Dermato-Venereologica

Abstract

Pseudoxanthoma elasticum (PXE; OMIM 264800) manifests with characteristic skin lesions of yellowish papules which coalesce into plaques of inelastic and leathery skin on the predilection sites (1). The ocular findings consist of angioid streaks, choroidal neovascularization and subretinal hemorrhages resulting in loss of visual acuity and occasional blindness. Cardiovascular problems include hypertension, intermittent claudication, and occasional myocardial infarcts and stroke. The prevalence of PXE is estimated to be in the range of 1:50,000-70,000 and to be more frequent in females than in males. The diagnosis can be challenging to clinicians due to late-onset of clinical manifestations and considerable heterogeneity. PXE is associated with mutations in the ABCC6 gene which encodes a transmembrane efflux transporter expressed primarily in the liver and the kidneys (2). Consequently, PXE has been suggested to be a metabolic disorder with ectopic mineralization of the peripheral connective tissues. Recent studies have also suggested that cutaneous features of PXE can be found in patients with generalized arterial calcification of infancy due to mutations in the ENPP1 gene (3, 4). Previous studies, which have documented close to 600 distinct mutations in the ABCC6 gene, have suggested the presence of unique mutations affecting certain ethnic groups with different ancestral backgrounds (5, 6). In this study, we asked the specific question whether Brazilian patients of mixed European, Native Indian and African ancestry with PXE harbor unique ABCC6 mutations, and whether such mutations might be correlated with the clinical phenotypes in this population with particular reference to heterozygous carriers.

Recommended Citation

Faria, Caroline Silvério; Li, Qiaoli; Guo, Haitao; Uitto, Jouni; Takeno, Sylvia Satomi; de Arruda Cardoso Smith, Marilia; and Freire-Maia, Dertia Villalba, "Clinical phenotypes and ABCC6 gene mutations in brazilian families with pseudoxanthoma elasticum." (2013). Department of Dermatology and Cutaneous Biology Faculty Papers. Paper 36.
https://jdc.jefferson.edu/dcbfp/36

PubMed ID

23572048