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Related Experiment Video

Updated: Aug 27, 2025

Mechanoluminescent Visualization of Crack Propagation for Joint Evaluation

Mechanoluminescent Visualization of Crack Propagation for Joint Evaluation

Published on: January 6, 2023

Seeing through the cracks.

Cecylia Witkowski¹, Niku Dhillon², Baljean Dhillon³

¹General medicine, Aberdeen Royal Infirmary, Aberdeen, UK.

The Journal of the Royal College of Physicians of Edinburgh

|September 23, 2022

Summary

This summary is machine-generated.

Pseudoxanthoma elasticum (PXE) can cause severe vision loss from maculopathy. This case shows subtle skin and eye signs of PXE may be missed, delaying diagnosis and treatment.

Keywords:

angioid streaks choroidal neovascularisation pseudoxanthoma elasticum

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Last Updated: Aug 27, 2025

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Area of Science:

Ophthalmology
Dermatology
Genetics

Background:

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder with variable presentation.
Dermatological and ophthalmic manifestations are key features of PXE.
Early diagnosis is crucial for managing comorbidities.

Observation:

A patient presented with advanced sight loss due to maculopathy.
Subtle skin changes on the neck were initially overlooked.
Retinal imaging revealed angioid streaks and outer retinal alterations.

Findings:

PXE aetiology was initially unrecognized despite significant ophthalmic and dermatological signs.
Diagnosis was confirmed via skin biopsy and genetic testing.
This case underscores the subtle and often hidden nature of PXE signs.

Implications:

Highlights the necessity of a multisystem approach for diagnosing PXE.
Emphasizes the importance of recognizing subtle dermatological and ophthalmic clues.
Underscores the potential for delayed diagnosis and the impact on patient outcomes.