Innovative Journal of Pediatrics
The Scientific Journal of Growth & Development Research Center
e-ISSN 3117-5341
Image Credit:Inn J Pediatr
Outline
Cutaneous Sarcoid-Like Granulomas in a Child Known with Nijmegen Breakage Syndrome
Authors
Published online:Jan 03, 2013
Article type:Case Report
Received:Jun 13, 2011
Accepted:Mar 03, 2012
How to Cite:Liana Rachisan A, Gheban D, Miu N. Cutaneous Sarcoid-Like Granulomas in a Child Known with Nijmegen Breakage Syndrome. Inn J Pediatr. 2013;23(1):. doi:
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.
Highlights
References
- 1.References are available on the PDF.
Copyright
© 2013, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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