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Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now
Open AccessCase Report

Role of Handheld In Vivo Reflectance Confocal Microscopy for the Diagnosis of Fabry Disease: A Case Report

1
Department of Medical, Surgical and Neurological Science, Dermatology Section, University of Siena, S. Maria alle Scotte Hospital, Viale Bracci 16, 53100 Siena, Italy
2
Department of Dermatology, University Hospital of St-Etienne, 42055 St-Etienne, France
*
Author to whom correspondence should be addressed.
Academic Editor: Jose A. Sanchez-Alcazar
Diseases 2018, 6(3), 55; https://doi.org/10.3390/diseases6030055
Received: 6 June 2018 / Revised: 21 June 2018 / Accepted: 25 June 2018 / Published: 27 June 2018
(This article belongs to the Collection Lysosomal Storage Diseases)
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase that leads to a systemic accumulation of globotriaosylceramide. Handheld in vivo reflectance confocal microscopy (HH-RCM) is a useful modern technique in diagnosis and follow-ups of many skin diseases. This noninvasive device provides high-resolution and high-contrast real-time images to study both the skin and the ocular surface structures that can help clinicians to confirm the diagnosis of FD. HH-RCM could be helpful even for the follow-ups of these patients, enabling us to monitor the effect of enzyme replacement therapy on corneal cells and keratinocytes. View Full-Text
Keywords: lysosomal diseases; fabry disease; confocal microscopy; diagnosis; screening lysosomal diseases; fabry disease; confocal microscopy; diagnosis; screening
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MDPI and ACS Style

Cinotti, E.; Provvidenziale, L.; Fimiani, M.; Perrot, J.L.; Cambazard, F.; Rubegni, P. Role of Handheld In Vivo Reflectance Confocal Microscopy for the Diagnosis of Fabry Disease: A Case Report. Diseases 2018, 6, 55.

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