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

Diseases

JeanLuc Perrot¹  Frederic Cambazard¹  Elisa Cinotti²  Michele Fimiani²  Luca Provvidenziale²  Pietro Rubegni² 

[1] Department of Dermatology, University Hospital of St-Etienne, 42055 St-Etienne, France;Department of Medical, Surgical and Neurological Science, Dermatology Section, University of Siena, S. Maria alle Scotte Hospital, Viale Bracci 16, 53100 Siena, Italy;

关键词: lysosomal diseases;    fabry disease;    confocal microscopy;    diagnosis;    screening;   

DOI  :  10.3390/diseases6030055

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown