PhD Scientific Days 2021

CL_VI_L: Clinical Medicine VI. Lectures

In vivo detection of skin changes in pseudoxanthoma elasticum using autofluorescence imaging

Text of the abstract

Introduction: Pseudoxanthoma elasticum (PXE, OMIM 264800) is a rare multisystemic autosomal recessive connective tissue disorder. In PXE patients, mutations in the ABCC6 gene lead to ectopic deposition of calcium salts and fragmentation of elastic fibers. Dystrophic calcification results in skin manifestations, followed by severe ocular and cardiovascular complications.
Aims: The aim of this study was to introduce a novel non-invasive technique for visualization and quantification of the severity of skin lesions in PXE patients.
Method: Several skin sites of five PXE patients were examined by dermoscopy and by autofluorescence (AF) and diffuse reflectance (DR) imaging techniques.
Results: The typical dermoscopic pattern of PXE was identified in most of the PXE-affected skin sites. Using AF imaging with 405 nm LED excitation, PXE-affected skin lesions gave high-contrast signal even in those skin sites where non-typical or normal dermoscopic pattern was visible. Areas of PXE-affected skin showed significantly higher mean AF intensity and minimum and maximum AF values compared to uninvolved skin. No significant differences were found in the DR images with 660 and 940 nm illumination.
Conclusion: Our results demonstrate that AF imaging enables the visualisation of the dermoscopic features of PXE in a higher contrast and provides opportunity for quantification of the severity of the skin manifestation of PXE patients. In addition, it is a safe, fast and cost-effective in vivo diagnostic method. AF imaging can promote the early diagnosis and may be also used to objectively follow up the efficacy of the novel therapeutic approaches of PXE in the future.
Funding: This work was supported by grants from the National Research, Development and Innovation Office of Hungary– NKFIH [FK_131916, 2019 (Semmelweis University, M.M.); ÚNKP-20-4-II-SE-7 (N.K.); EFOP-3.6.3-VEKOP-16-2017-00009 (K.F.)

University and Doctoral School

Semmelweis University, Károly Rácz Doctoral School of Clinical Medicine