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Related Experiment Video

Updated: May 12, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

[Pseudoxanthoma elasticum. More than a skin problem].

S A Braun¹, D Finis, D Helbig

¹Hautklinik des Universitätsklinikums Düsseldorf.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete

|April 12, 2013

Summary

This summary is machine-generated.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder causing tissue mineralization. Early diagnosis via skin and eye findings is crucial for managing this condition, as effective cures are unavailable.

Related Experiment Videos

Last Updated: May 12, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

Area of Science:

Genetics
Dermatology
Ophthalmology
Cardiology

Background:

Pseudoxanthoma elasticum (PXE) is a rare, autosomal recessive genetic disorder.
It involves ectopic mineralization of connective tissues, affecting skin, eyes, and the cardiovascular system.
Mutations in the ABCC6 gene are the known cause of PXE.

Observation:

A 9-year-old boy presented with lifelong periumbilical skin abnormalities.
Retinal findings, specifically the "peau d'orange" phenomenon, were observed.
These clinical signs facilitated a definitive PXE diagnosis based on 2010 criteria.

Findings:

PXE diagnosis was confirmed in a pediatric patient presenting with characteristic skin and retinal manifestations.
The case highlights the importance of recognizing clinical signs for early identification of PXE.
No curative treatments currently exist for Pseudoxanthoma elasticum.

Implications:

Interdisciplinary management involving dermatology, ophthalmology, and cardiology is essential for PXE patients.
Proactive monitoring and care are vital to prevent severe ocular and cardiovascular complications.
Further research into PXE pathogenesis and therapeutic strategies is warranted.