Format

Send to

Choose Destination
Expert Opin Orphan Drugs. 2014 Jun 1;2(6):567-577.

PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.

Author information

1
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA.
2
Institute of Enzymology, RCNS, Hungarian Academy of Sciences.
3
Department of Dermatology, Warren Alpert Medical School of Brown University, Providence, RI ; PXE International, Washington, DC.
4
PXE International, Washington, DC.

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 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 murine 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.

KEYWORDS:

Pseudoxanthoma elasticum; ectopic mineralization disorders; generalized arterial calcification of infancy; heritable orphan diseases

PMID:
25383264
PMCID:
PMC4219573

Supplemental Content

Full text links

Icon for PubMed Central
Loading ...
Support Center