ArticleThe British journal of dermatology2012
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 in The British journal of dermatology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Pseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature.Rheumatology international · 2024Pooled it
- Long-term survival and phenotypic expansion in siblings with generalized arterial calcification of infancy.JCEM case reports · 2026Article
- The impact of monoallelic inactivation mutations in the ENPP1 gene on pediatric skeletal development: a case report and literature review.Frontiers in endocrinology · 2025Review
- Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke.Neurology. Genetics · 2024Review
- Pseudoxanthoma elasticum as a diagnostic challenge for pathologists: A rare case report.Annals of medicine and surgery (2012) · 2022Article
- ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.PLoS genetics · 2022Article
- Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020.Journal of clinical medicine · 2020Review
- Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.Current osteoporosis reports · 2020Review
- Cutaneous polyarteritis nodosa and concurrent pseudoxanthoma elasticum-like phenotype: A case report.SAGE open medical case reports · 2020Article
- Hypercementosis Associated with ENPP1 Mutations and GACI.Journal of dental research · 2018Article
- Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6The Journal of investigative dermatology · 2017Article
- Article
- Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.The Journal of investigative dermatology · 2016Review
- Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy.The Journal of investigative dermatology · 2016Article
- ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy.Nature communications · 2015Article
- Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.Intractable & rare diseases research · 2015Review
- From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders.World journal of clinical cases · 2015Review
- Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.The Journal of investigative dermatology · 2015Article
- The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.Cell cycle (Georgetown, Tex.) · 2015Article
- Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.European journal of pediatrics · 2014Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundPseudoxanthoma 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.
objectivesA 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.
methodsThe patient's genotype was studied by sequencing ABCC6, MGP and ENPP1 genes, encoding proteins which harbour mutations in ectopic mineralization disorders.
resultsNo 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.
conclusionsThis 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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