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Aicardi‐Goutières Syndrome: Cutaneous, Laboratory, and Radiologic Findings: A Case Report
Author(s) -
Juern Anna,
Robbins Amber,
Galbraith Sheila,
Drolet Beth
Publication year - 2010
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2009.01055.x
Subject(s) - medicine , cerebral vasculitis , pathology , basal ganglia , encephalopathy , dermatology , vasculitis , central nervous system , disease
Aicardi‐Goutières syndrome is a primarily autosomal recessive disorder characterized by congenital encephalopathy, basal ganglia calcifications, elevated interferon‐α 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.