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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
To our knowledge, this is the first published photographic evidence of cutaneous cystinosis and only the fourth case report in the literature of cutaneous accumulation of cystine crystals in a patient with cystinosis.2- 4 A 28-year-old white man was referred for further investigation of skin-colored, dome-shaped firm papules over the chin, nose, and perinasal region (Figure 1). The facial papules had increased in size and number since he first noticed them at about age 18 years. The referring physician had questioned a diagnosis of multiple angiofibromas in the context of tuberous sclerosis. Multiple trichoepitheliomas could have also been considered. The patient had a medical history of cystinosis requiring a right renal transplant at age 14 years.
Stevens MS, Sade S, Walsh S. Facial Papules in a Patient With Long-Term Cystinosis. JAMA Dermatol. 2016;152(1):108-109. doi:10.1001/jamadermatol.2015.2660