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Nijmegen Breakage Syndrome Associated with Porokeratosis
Author(s) -
WOLF ELIZABETH K.,
SHWAYDER TOR A.
Publication year - 2009
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2008.00839.x
Subject(s) - nijmegen breakage syndrome , medicine , microcephaly , dermatology , malignancy , porokeratosis , immunodeficiency , genetics , ataxia telangiectasia , autosomal recessive inheritance , pediatrics , pathology , gene , immunology , dna , biology , dna damage , immune system
Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder caused by mutations in the NBS‐1 gene (8q21). Patients with this autosomal recessive condition have characteristic facial features, microcephaly present at birth, immunodeficiency, predisposition to malignancy, ionizing radiation hypersensitivity, and growth retardation. We report a 12‐year‐old boy with NBS associated with porokeratosis; to our knowledge this association has not previously been reported.