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Aicardi-Goutières syndrome: cutaneous, laboratory, and radiologic findings: a case report
Anna Juern1, Amber Robbins, Sheila Galbraith
1Pediatric Dermatology, Medical College of Wisconsin, Milwaukee, WI 53214, USA. ajuern@mcw.edu
Abstract:
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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