Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by immunodeficiency, predisposition to cancer, growth retardation, and characteristic facies.1 This rare syndrome shares molecular and clinical similarities with ataxia-telangiectasia (AT), in which cutaneous granulomas have been described.2 To our knowledge, cutaneous granulomas have not been reported with NBS. We describe herein a patient with NBS presenting with noncaseating granulomas confined to the skin.
Yoo J, Wolgamot G, Torgerson TR, Sidbury R. Cutaneous Noncaseating Granulomas Associated With Nijmegen Breakage Syndrome. Arch Dermatol. 2008;144(3):418–419. doi:10.1001/archderm.144.3.418
Artificial Intelligence Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.