Funding sources These studies were supported by NIH/NIAMS grants R01 AR28450 and R01 AR55225 (J.U.). Q.L. is the recipient of a Research Career Development Award from Dermatology Foundation.
1365-2133/asset/olbannerleft.jpg?v=1&s=3d13800721e0d35da4d49e694f63a9d81054ca17)
1365-2133/asset/olbannerright.jpg?v=1&s=9ea9b247f2d7101244b2bef959a0874a886ec363)
CONCISE COMMUNICATION
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene
Article first published online: 4 APR 2012
DOI: 10.1111/j.1365-2133.2012.10811.x
© 2012 The Authors. BJD © 2012 British Association of Dermatologists
Additional Information
How to Cite
Li, Q., Schumacher, W., Jablonski, D., Siegel, D. and Uitto, J. (2012), Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. British Journal of Dermatology, 166: 1107–1111. doi: 10.1111/j.1365-2133.2012.10811.x
Conflicts of interest None declared.
Q.L. and W.S. contributed equally to this study.
Publication History
- Issue published online: 23 APR 2012
- Article first published online: 4 APR 2012
- Accepted manuscript online: 9 JAN 2012 03:58PM EST
- Accepted for publication 31 December 2011
- Abstract
- Article
- References
- Cited By
Summary
Background Pseudoxanthoma elasticum (PXE) manifests with cutaneous lesions consisting of yellowish papules coalescing into plaques of inelastic skin. Histopathology demonstrates accumulation of pleiomorphic elastic structures with progressive mineralization. The classic form of PXE is caused by mutations in the ABCC6 gene.
Objectives A 2-year-old patient with PXE of the neck, inguinal folds and lower abdomen, and with extensive tissue mineralization, was evaluated for the underlying mutations in candidate genes known to be involved in ectopic mineralization disorders.
Methods The patient’s genotype was studied by sequencing ABCC6, MGP and ENPP1 genes, encoding proteins which harbour mutations in ectopic mineralization disorders.
Results No pathogenetic mutations were found in the ABCC6 or MGP genes. Sequencing of ENPP1 disclosed a homozygous missense mutation, p.Y513C, associated with generalized arterial calcification of infancy.
Conclusions This study demonstrates the presence of the cutaneous features of PXE in a genetically distinct disease, generalized arterial calcification of infancy, and thus expands the spectrum of PXE-related disorders.