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PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS
- Source :
- Expert opinion on orphan drugs. 2(6)
- Publication Year :
- 2014
-
Abstract
- Introduction: Pseudoxanthoma elasticum (PXE), a multisystem orphan disease, clinically affects the skin, the eyes and the cardiovascular system with considerable morbidity and mortality. The clinical manifestations reflect the underlying pathology consisting of ectopic mineralization of peripheral connective tissues. Areas covered: The diagnostic criteria of PXE include characteristic clinical findings, together with histopathology of accumulation of pleiomorphic elastic structures in the dermis with progressive mineralization, and the presence of mutations in the ABCC6 gene. PXE-like cutaneous changes can also be encountered in other ectopic mineralization disorders, including generalized arterial calcification of infancy (GACI) caused by mutations in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene. In some cases, overlapping clinical features of PXE/GACI, associated with mutations either in ABCC6 or ENPP1, have been noted. PXE demonstrates considerable inter- and intrafamilial hetero...
- Subjects :
- medicine.medical_specialty
Pathology
biology
business.industry
Health Policy
Treatment options
ABCC6
Disease
Pseudoxanthoma elasticum
medicine.disease
Generalized arterial calcification
Ectopic mineralization
Article
medicine.anatomical_structure
Dermis
biology.protein
Medicine
Pharmacology (medical)
Histopathology
business
Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
Subjects
Details
- ISSN :
- 21678707
- Volume :
- 2
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Expert opinion on orphan drugs
- Accession number :
- edsair.doi.dedup.....4755ae70274a248a6e1b71ef4fd1b218