Pseudoxanthoma Elasticum: Report of Two Cases.
Dermatopathology
Elastorrhexis
Grönblad-Strandberg syndrome
Pseudoxanthoma elasticum
Journal
Case reports in dermatology
ISSN: 1662-6567
Titre abrégé: Case Rep Dermatol
Pays: Switzerland
ID NLM: 101517685
Informations de publication
Date de publication:
Historique:
received:
17
07
2020
accepted:
29
11
2020
entrez:
31
5
2021
pubmed:
1
6
2021
medline:
1
6
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34054458
doi: 10.1159/000513468
pii: cde-0013-0230
pmc: PMC8138145
doi:
Types de publication
Case Reports
Langues
eng
Pagination
230-237Informations de copyright
Copyright © 2021 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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