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Cutaneous Sarcoid-Like Granulomas in a Child Known with Nijmegen Breakage Syndrome

AUTHORS

Andreea Liana Rachisan 1 , * , Dan Gheban 2 , Nicolae Miu 3

How to Cite: Liana Rachisan A, Gheban D, Miu N. Cutaneous Sarcoid-Like Granulomas in a Child Known with Nijmegen Breakage Syndrome, Iran J Pediatr. 2013 ; 23(1):100-104.

ARTICLE INFORMATION

Iranian Journal of Pediatrics: 23 (1); 100-104
Published Online: January 03, 2013
Article Type: Case Report
Received: June 13, 2011
Accepted: March 03, 2012

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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

© 0, Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

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