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Non-Invasive Skin Imaging of Pseudoxanthoma Elasticum Using Dynamic Optical Coherence Tomography: Insights from a
Camilla Chello1, Alessandro Laghi1,2, Ludovica Melchiorri1
1Department of Internal Medicine and Medical Specialties, Unit of Dermatology, "Sapienza" University of Rome, Rome, Italy.
Dermatology Practical & Conceptual
|November 14, 2025
Summary
Dynamic optical coherence tomography (D-OCT) noninvasively detects dermal abnormalities in Pseudoxanthoma elasticum (PXE) patients, showing reduced fiber density and altered vessel density. This method offers a promising alternative to skin biopsy for diagnosing PXE.
Area of Science:
- Dermatology and Medical Imaging
Background:
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic fibers, with skin manifestations often being the first sign.
- Diagnosis typically involves clinical evaluation, histopathology, and genetic testing.
Purpose of the Study:
- To validate dynamic optical coherence tomography (D-OCT) as a noninvasive diagnostic tool for PXE-related skin changes.
- To assess D-OCT's ability to detect dermal abnormalities in PXE patients.
Main Methods:
- A case-control study involving 23 PXE patients and 11 controls.
- Analysis of cervical, axillary, and periumbilical skin folds using clinical assessment and D-OCT.
- D-OCT quantified fiber density, attenuation, and vessel density at specific depths.
Main Results:
- 91.30% of PXE patients exhibited cutaneous involvement, particularly in cervical areas.
- PXE patients showed reduced dermal fiber density and increased attenuation compared to controls.
- A significant decrease in vessel density was observed in the axillary area of PXE patients.
Conclusions:
- D-OCT effectively identifies dermal alterations in PXE, including subclinical findings.
- This noninvasive imaging technique shows promise as an alternative to skin biopsy for PXE diagnosis.
