ArticleCase reports in dermatology
Pseudoxanthoma Elasticum: Report of Two Cases.
Article in Case reports in dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 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
- Nonfamilial Pseudoxanthoma Elasticum: A Case Report With Review of Selected Literature.Clinical case reports · 2026Article
- Ocular Manifestations Leading to the Diagnosis of Pseudoxanthoma Elasticum with a Novel Heterozygous ABCC6 Mutation: A Case Report.Case reports in dermatologyArticle
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of skin, media, and intima of blood vessels and Bruch's membrane of the eye. The genetic defect of the disorder is located on chromosome 16p13.1 and disease is caused by the lack of functional ABCC6 protein, which in turn causes extracellular accumulation and deposition of calcium and other minerals in the elastic tissue. In this article we present two cases of this rare disease. We emphasize, in the diagnostic criteria, the importance of its early diagnosis and the current therapeutic approaches.
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