1. Enhanced Intrinsic Skin Aging in Nephropathic Cystinosis Assessed by High-Definition Optical Coherence Tomography

    Enhanced Intrinsic Skin Aging in Nephropathic Cystinosis Assessed by High-Definition Optical Coherence Tomography

    To the Editor Cystinosis is a rare autosomal recessive lysosomal storage disorder, caused by the mutations in the CTNS gene, which leads to the dysfunction of the cystine transporter cystinosin. Although nephropathic cystinosis is characterized by kidney disease, which is the first and the most severe feature of this disorder, it is a multisystem disease in which several clinical signs suggest the skin to be a part of the phenotype ( Elmonem et al., 2016 ). This includes a fair complexion of the hair and skin, mainly in Caucasian patients, and progressive coarse facial features and variable degrees of atrophy and telangiectasia ...

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