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Facial Papules in a Patient With Long-Term Cystinosis

Michael S. Stevens, BSc, PT, MD1; Shachar Sade, MD, MSc, FRCPC2; Scott Walsh, MD, PhD, FRCPC, DABD3
[+] Author Affiliations
1Department of Dermatology, University of Toronto, Toronto, Ontario, Canada
2Department of Pathology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada
3Division of Dermatology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada
JAMA Dermatol. 2016;152(1):108-109. doi:10.1001/jamadermatol.2015.2660.
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This case report describes the occurrence of facial papules in a patient with long-term cystinosis.

Cystinosis is a rare autosomal recessive inherited metabolic disorder. It is caused by an excessive intracellular accumulation of the amino acid cystine owing to a defect in the transport of cystine across the lysosomal membrane.1

Article InformationCorresponding Author: Michael S. Stevens, MD, Department of Dermatology, University of Toronto, 2075 Bayview Ave, Ste M1-700, Toronto, ON M4N 3M5, Canada (michael.stevens@sickkids.ca).

Published Online: September 23, 2015. doi:10.1001/jamadermatol.2015.2660.

Conflict of Interest Disclosures: None reported.

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Figure 1.
Cutaneous Cystinosis on the Face of a Young Man

This photograph shows firm, dome-shaped, shiny facial papules.

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Figure 2.
Biopsy Specimen From a Cutaneous Cystinosis Facial Papule Under Electron Microscopy

This electron micrograph shows a dermal fibroblast with prominent crystalline inclusions within the cytoplasm and some smaller inclusions forming within lysosomes (magnification ×8000).

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