Pseudoxanthoma elasticum: Diagnostic features, classification and treatment options

Jouni Uitto, Qiujie Jiang, A. Váradi, Lionel G. Bercovitch, Sharon F. Terry

Research output: Contribution to journalArticle

30 Citations (Scopus)

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 heterogeneity, and consequently, accurate diagnosis is required for appropriate classification with prognostic implications. There is no effective and specific treatment for the systemic manifestations of PXE, but effective therapies to counteract the ocular complications are in current clinical use. Expert opinion: A number of observations in the animal model, the Abcc6-/- , mouse, have indicated that the mineral composition of diet, particularly the magnesium content, can influence the severity of the mineralization phenotype. These observations suggest that appropriate dietary interventions, coupled with lifestyle modifications, including smoking cessation, might alleviate the symptoms and improve the quality of life of individuals affected with this, currently intractable, orphan disease.

Original languageEnglish
Pages (from-to)567-577
Number of pages11
JournalExpert Opinion on Orphan Drugs
Volume2
Issue number6
DOIs
Publication statusPublished - 2014

Fingerprint

Pseudoxanthoma Elasticum
Rare Diseases
Mutation
Skin
Expert Testimony
Smoking Cessation
Dermis
Cardiovascular System
Connective Tissue
Magnesium
Genes
Minerals
Life Style
Animal Models
Quality of Life
Pathology
Diet
Morbidity
Phenotype
Mortality

Keywords

  • Ectopic mineralization disorders
  • Generalized arterial calcification of infancy
  • Heritable orphan diseases
  • Pseudoxanthoma elasticum

ASJC Scopus subject areas

  • Pharmacology (medical)
  • Health Policy
  • Pharmacology, Toxicology and Pharmaceutics (miscellaneous)

Cite this

Pseudoxanthoma elasticum : Diagnostic features, classification and treatment options. / Uitto, Jouni; Jiang, Qiujie; Váradi, A.; Bercovitch, Lionel G.; Terry, Sharon F.

In: Expert Opinion on Orphan Drugs, Vol. 2, No. 6, 2014, p. 567-577.

Research output: Contribution to journalArticle

Uitto, Jouni ; Jiang, Qiujie ; Váradi, A. ; Bercovitch, Lionel G. ; Terry, Sharon F. / Pseudoxanthoma elasticum : Diagnostic features, classification and treatment options. In: Expert Opinion on Orphan Drugs. 2014 ; Vol. 2, No. 6. pp. 567-577.
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