Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in theENPP1gene

9 Jan 2012

Abstract excerpt

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,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Dermatological and Skeletal Disorders
Share to Heterotopic Ossification and Related Conditions
Share to Skin and Cellular Biology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 22229486
DOI: 10.1111/j.1365-2133.2012.10811.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in theENPP1genePMID 22229486Read ↗

Paediatric pseudoxanthoma elasticum with cardiovascular involvement.Semantic proximity Read ↗

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.Semantic proximity Read ↗

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coinSemantic proximity Read ↗

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.Semantic proximity Read ↗

Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatmentSemantic proximity Read ↗

Pseudoxanthoma Elasticum-Like Changes:Associations- and Underlying Mechanisms.Semantic proximity Read ↗

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.Semantic proximity Read ↗

Pseudoxanthoma elasticum-like phenotypes: more diseases than one.Semantic proximity Read ↗

Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.Semantic proximity Read ↗

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.Semantic proximity Read ↗

Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.Semantic proximity Read ↗

Molecular genetics of pseudoxanthoma elasticum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.