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Pseudoxanthoma elasticum.

E Steve Roach¹, Monica P Islam¹

¹Department of Child Neurology, Nationwide Children's Hospital, Ohio State University College of Medicine, Columbus, OH, USA.

Handbook of Clinical Neurology

|November 14, 2015

Summary

Pseudoxanthoma elasticum (PXE) involves elastic tissue calcification, causing skin and eye issues. Management focuses on lifestyle changes to mitigate cerebrovascular and gastrointestinal complications.

Keywords:

ABCC6 Pseudoxanthoma elasticum aneurysm angioid streaks arterial calcification autosomal recessive elastic fibers retinal hemorrhage stroke

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Area of Science:

Medical Genetics
Dermatology
Ophthalmology

Background:

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by progressive calcification and fragmentation of elastic tissues.
Clinical manifestations include characteristic skin lesions (angioid streaks), and potential vascular complications affecting the brain, gastrointestinal tract, and peripheral arteries.
Diagnosis is often delayed until adulthood, despite potential childhood onset of symptoms.

Purpose of the Study:

To provide a comprehensive overview of Pseudoxanthoma elasticum (PXE).
To detail the pathophysiology, clinical presentation, diagnostic methods, and genetic basis of PXE.
To outline current management strategies and lifestyle recommendations for patients with PXE.

Main Methods:

Review of existing literature on Pseudoxanthoma elasticum.
Analysis of clinical findings, including skin biopsy results and ophthalmologic examinations.
Genetic analysis focusing on mutations in the ABCC6 gene.

Main Results:

PXE is caused by mutations in the ABCC6 gene, inherited in an autosomal recessive pattern.
Characteristic findings include calcified elastic fibers in the skin and angioid streaks in the retina.
Vascular complications such as stroke, hemorrhage, and peripheral arterial disease are significant concerns.

Conclusions:

PXE is a multisystem disorder with significant morbidity due to vascular calcification.
Early diagnosis and proactive management, including lifestyle modifications, are crucial for preventing complications.
Further research into therapeutic interventions for PXE is warranted.