title: Neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma.
abstract: We report an 11-year-old girl who presented with a painless unilateral enlargement of the nasal bridge. Because of multiple café-au-lait spots and a positive family history, neurofibromatosis 1was diagnosed. On a computed tomographic scan, a unilocular radiolucency measuring 1.2 x 2 cm was seen in the anterior wall of the maxillary sinus, which was surgically removed. Histology revealed a central giant cell granuloma. Hyperparathyroidism, which can present with an osseous tumor and similar histology, was excluded. Molecular analysis uncovered a novel splice mutation (A4268G) in this neurofibromatosis 1 family, affecting our patient as well as her mother and brother. This article focuses on the variability of the neurofibromatosis 1 phenotype in this family and the possible relationship between central giant cell granuloma and neurofibromatosis 1.
authors.affiliation: St. Anna Children's Hospital, Vienna, Austria.
authors.forename: Uta
authors.initials: U
authors.lastname: Krammer
authors.forename: Katharina
authors.initials: K
authors.lastname: Wimmer
authors.forename: Peter
authors.initials: P
authors.lastname: Wiesbauer
authors.forename: Michael
authors.initials: M
authors.lastname: Rasse
authors.forename: Susanna
authors.initials: S
authors.lastname: Lang
authors.forename: Andrea
authors.initials: A
authors.lastname: Müllner-Eidenböck
authors.forename: Herwig
authors.initials: H
authors.lastname: Frisch
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006101:Granuloma, Giant Cell / Q000473:pathology*; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D010254:Paranasal Sinus Diseases / Q000473:pathology*
chemical_list: D025542:Neurofibromin 1