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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406 EISSN: 1018-4406
Vol. 23, No. 1, 2013, pp. 100-104
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Bioline Code: pe13017
Full paper language: English
Document type: Case Report
Document available free of charge
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Iranian Journal of Pediatrics, Vol. 23, No. 1, 2013, pp. 100-104
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Cutaneous Sarcoid-Like Granulomas in a Child Known with Nijmegen Breakage Syndrome
Rachisan, Andreea Liana; Gheban, Dan & Miu, Nicolae
Abstract
Background: Nijmegen Breakage Syndrome(NBS) is a rare autosomal recessive disorder with specific clinical
features, characteristic chromosomal breakage and combined imunodeficiency. Patients with this condition
also associate growth retardation with microcephaly, predisposition to malignancy and specific skin
manifestations.
Case Presentation: Here we report a 3-year old girl known with NBS associated with cutaneous sarcoid-like
lesions. She presented with one year history of squamous lesions on the face and upper and lower limbs. The
lesions were biopsied and histopatological examination revealed nonnecrotizing epitheloid granulomas and
raised the suspicion of a sarcoid-like entity.
Conclusion: The interest of this case will serve to better understand clinical manifestations in a rare genetic
entity. Close follow-up is advised as cutaneous granulomas may be the first manifestation of systemic
granulomas.
Keywords
Nijmegen Breakage Syndrome; Sarcoid-like Lesion; Granulomas; Imunodeficiency
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© Copyright 2013 - Iran Journal of Pediatrics Alternative site location: http://diglib.tums.ac.ir/pub/
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