Aicardi-Goutières Syndrome: Cutaneous, Laboratory, and Radiologic Findings: A Case Report
Pediatric Dermatology, Medical College of Wisconsin, Milwaukee, WI 53214, USA. Pediatric Dermatology
(Impact Factor: 1.02).
01/2010; 27(1):82-5. DOI: 10.1111/j.1525-1470.2009.01055.x
Aicardi-Goutières syndrome is a primarily autosomal recessive disorder characterized by congenital encephalopathy, basal ganglia calcifications, elevated interferon-alpha in blood and cerebral spinal fluid, and negative studies for intrauterine infections that can mimic the syndrome. Cutaneous manifestations include pernio, photosensitivity, and cutaneous vasculitis. We present a case of Aicardi-Goutières syndrome to increase awareness of the disorder and its possible relation to systemic lupus erythematosus.
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