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

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 ...

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

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