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VIGNETTES
Cutaneous Noncaseating Granulomas Associated With Nijmegen Breakage Syndrome
Jane Yoo, MD;
Greg Wolgamot, MD, PhD;
Troy R. Torgerson, MD, PhD;
Robert Sidbury, MD
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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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.
Report of a Case
A 7-year-old Ukrainian girl was referred for evaluation of skin lesions that had first appeared at age 2 years. They began on the cheeks and later developed on the arms and legs. The lesions were described as initially pimplelike with subsequent progression to larger atrophic plaques (Figure 1).
Figure appears in full text version.
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Figure 1. Atrophic granulomatous facial plaques.
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The patient's medical history was significant for microcephaly, growth retardation with short stature, mild speech . . . [Full Text of this Article]
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AUTHOR INFORMATION
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