Open AccessNIJMEGEN BREAKAGE SYNDROME COMPLICATED WITH PRIMARY CUTANEOUS TUBERCULOSIS
Author(s) -
Melinda Erdős,
Beáta Tóth,
Imre Veres,
Mária Kiss,
Éva Remenyik,
László Maródi
Publication year - 2011
Publication title -
the pediatric infectious disease journal/the pediatric infectious disease journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.028
H-Index - 140
eISSN - 1532-0987
pISSN - 0891-3668
DOI - 10.1097/inf.0b013e3181faa941
Subject(s) - nijmegen breakage syndrome , microcephaly , mycobacterium tuberculosis , medicine , tuberculosis , malignancy , pathology , polymerase chain reaction , dermatology , biology , ataxia telangiectasia , pediatrics , genetics , dna , dna damage , gene
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosomal instability syndrome characterized by severe immunodeficiency, growth retardation, microcephaly, a distinct facial appearance, and a high predisposition to lymphoid malignancy. We report a 7-year-old white girl with NBS associated with cutaneous tuberculosis. The patient presented with multiple red-brown, centrally scaring plaques on the leg and had neither pulmonary nor systemic manifestation of tuberculosis. Polymerase chain reaction testing using Mycobacterium genus- and Mycobacterium tuberculosis species-specific primers confirmed the clinical diagnosis of cutaneous tuberculosis. This is the first report describing the simultaneous presentation of NBS and cutaneous tuberculosis.