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Case Reports
. 2012 May;166(5):1107-11.
doi: 10.1111/j.1365-2133.2012.10811.x. Epub 2012 Apr 4.

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene

Q Li  1 , W Schumacher, D Jablonski, D Siegel, J Uitto
Affiliations
Case Reports

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene

Q Li et al. Br J Dermatol. 2012 May.

Abstract

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.

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Figures

Figure 1
Figure 1
CT angiogram of the heart prior to contrast. There is abnormal calcification on the left circumflex artery (white arrow) and left main coronary artery (black arrow). There is normal calcification in the sternum and ribs. Photo courtesy of Dr. Sara Arnold at Children’s Hospital of Wisconsin.
Figure 2
Figure 2
PXE-like cutaneous findings and mutation analysis. The 2-year old patient demonstrates characteristic skin lesions on the side of the neck (a, asterisk), which histopathologically by von Kossa staining reveal ectopic mineralization in the dermis (b, arrowheads). Mutation analysis of the ENPP1 gene reveals a codon for tyrosine in position 513 in control DNA (c), which is replaced in the patient’s DNA by a codon for cysteine (d), confirming the diagnosis of generalized arterial calcification of infancy.
See this image and copyright information in PMC

References

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