Ataxia-telangiectasia associated with sarcoidosis.
Ataxia-telangiectasia and sarcoidosis are diseases characterized by abnormalities of the immune system. We examined a 13-year-old female with ataxia-telangiectasia who developed atrophic, violaceous plaques of the skin and a destructive, polyarticular arthritis. The histologic features of both skin and synovium were most consistent with a diagnosis of sarcoidosis. Interaction of these two immunologic disorders may have resulted in the unusual features of this patient's disease.
D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000276:immunology / Q000473:pathology; D002648:Child; D005260:Female; D006099:Granuloma / Q000473:pathology; D006801:Humans; D012507:Sarcoidosis / Q000150:complications* / Q000276:immunology / Q000473:pathology; D012867:Skin / Q000473:pathology; D013583:Synovial Membrane / Q000473:pathology