title: Aicardi-Goutières syndrome: cutaneous, laboratory, and radiologic findings: a case report.
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.
authors.affiliation: Pediatric Dermatology, Medical College of Wisconsin, Milwaukee, WI 53214, USA. ajuern@mcw.edu
authors.forename: Anna
authors.initials: A
authors.lastname: Juern
authors.forename: Amber
authors.initials: A
authors.lastname: Robbins
authors.forename: Sheila
authors.initials: S
authors.lastname: Galbraith
authors.forename: Beth
authors.initials: B
authors.lastname: Drolet
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology; D020274:Autoimmune Diseases of the Nervous System / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000000981:diagnostic imaging*; D005533:Foot Dermatoses / Q000473:pathology*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging; D009260:Nail Diseases / Q000473:pathology*; D011859:Radiography; D012871:Skin Diseases / Q000473:pathology*; D013577:Syndrome