title: Nijmegen breakage syndrome associated with porokeratosis.
abstract: 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.
authors.affiliation: Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
authors.forename: Elizabeth K
authors.initials: EK
authors.lastname: Wolf
authors.forename: Tor A
authors.initials: TA
authors.lastname: Shwayder
mesh_terms: D001706:Biopsy; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D019066:Facies; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D049932:Nijmegen Breakage Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics; D017499:Porokeratosis / Q000150:complications* / Q000473:pathology*; D012867:Skin / Q000473:pathology*
chemical_list: D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins