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

Andreea Liana Rachisan; Dan Gheban; Nicolae Miu

IJ Pediatrics

The Scientific Journal of Growth & Development Research Center

Outlines

Abstract
References
Copyright

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

Author(s):

Andreea Liana Rachisan^1,*,

Dan Gheban²,

Nicolae Miu³

IJ Pediatrics:Vol. 23, issue 1; 100-104

Published online:Jan 03, 2013

Article type:Case Report

Received:Jun 13, 2011

Accepted:Mar 03, 2012

How to Cite:Andreea Liana RachisanDan GhebanNicolae MiuCutaneous Sarcoid-Like Granulomas in a Child Known with Nijmegen Breakage Syndrome.Iran J Pediatr.23(1):100-104.

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

Fulltext

Click here to download PDF.

References

1.
References are available on the PDF.

comments