Non-Invasive Skin Imaging of Pseudoxanthoma Elasticum Using Dynamic Optical Coherence Tomography: Insights from a Case-Control Study.

ABSTRACT:

Introduction

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by progressive mineralization and fragmentation of elastic fibers, leading to multisystem involvement. Diagnosis relies on clinical features, histopathology, and, in selected cases, genetic testing, with cutaneous manifestations often representing the earliest signs.

Objective

To validate dynamic optical coherence tomography (D-OCT) as a noninvasive diagnostic method for detecting PXE-related dermal abnormalities.

Methods

In this case-control study, PXE patients evaluated at Umberto I Policlinic (Rome, Italy) between May 2023 and September 2024 underwent clinical and instrumental assessment. The left lateral cervical, retrocervical, left axillary, and periumbilical folds were analyzed

SUBMITTER: Chello C 

PROVIDER: S-EPMC12615086 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature