Autofluorescence Imaging of the Skin Is an Objective Non-Invasive Technique for Diagnosing Pseudoxanthoma Elasticum.

Klára Farkas,Norbert M Wikonkál,Luca Fésűs,Norbert Kiss,Marta Lange,Sára Zakariás,Ilze Lihacova,Dóra Plázár,András Bánvölgyi,Márta Medvecz,Pálma Anker,Alexey Lihachev,Tamás Arányi,Szabolcs Bozsányi

doi:10.3390/diagnostics11020260

Klára Farkas, Norbert M Wikonkál + Show 12 more

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https://doi.org/10.3390/diagnostics11020260

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Abstract

Pseudoxanthoma elasticum (PXE) is a rare multisystemic autosomal recessive connective tissue disease. In most cases, skin manifestations of PXE are the first to develop, followed later by severe ocular and cardiovascular complications. In our present study, in addition to dermoscopy, we introduced novel techniques, autofluorescence (AF) and diffuse reflectance (DR) imaging for the assessment of affected skin sites of five PXE patients. PXE-affected skin areas in most skin sites showed a previously observed pattern upon dermoscopic examination. With the novel imaging, PXE-affected skin lesions displayed high AF intensity. During our measurements, significantly higher mean, minimum and maximum AF intensity values were found in areas of PXE-affected skin when compared to uninvolved skin. Conversely, images acquired with the use of 660 and 940 nm illumination showed no mentionable difference. Our results demonstrate that AF imaging may be used in the in vivo diagnostics and quantification of the severity of the skin lesions of PXE patients. In addition, it is a safe, fast and cost-effective diagnostic method. AF imaging may be also used to objectively monitor the efficacy of the possible novel therapeutic approaches of PXE in the future.

Highlights

Rare diseases may occur infrequently, yet, taken together, they affect a significant proportion of the population and place an increasing burden on society and healthcare [1].Pseudoxanthoma elasticum (PXE, OMIM#264800) is a rare multisystemic autosomal recessive connective tissue disease
Histopathological features of PXE are characteristic for PXE-like conditions that include PXE-like syndrome with multiple coagulation factor deficiency [5] and generalized arterial calcification of infancy (GACI, OMIM#614473), which should be considered in the differential diagnosis [6]
Diagnosis of PXE is crucial to start the immediate management of the disorder which can delay or stop the progression of the systemic complications

Summary

Introduction

Pseudoxanthoma elasticum (PXE, OMIM#264800) is a rare multisystemic autosomal recessive connective tissue disease. PXE can be caused by over 300 mutations, located at the ABCC6 (ATP-binding cassette subfamily C member 6) gene [3]. These mutations lead to decreased serum levels of inorganic pyrophosphate (PPi), which is an anti-mineralization factor. Other dermal elastic tissue disorders, such as perforating calcific elastosis, late-onset focal dermal elastosis or papillary dermal elastolysis may clinically and histologically resemble PXE, while they mainly occur in the elderly and lack systemic manifestations [7,8]. Clinical signs of PXE usually occur during the first two decades of life. The papules coalesce into plaques and the skin becomes redundant and loose [9,10,11]

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