title: Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review.
abstract: Nevoid basal cell carcinoma syndrome (NBCCS), an autosomal dominant disorder with a high degree of penetrance and variable expressivity, is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. More than 100 minor criteria have been described, but 2 major and 1 minor criteria or 1 major and 3 minor criteria are necessary for the diagnosis. In this report we present an 8-year-old girl affected by NBCCS showing a uterus bicornis, a hitherto unreported association. However, further research is needed to confirm the association between NBCCS and mullerian fusion defects and to assess the hypothesis that focuses on chromosome 9 the mutant gene for NBCCS and fusion defects of female genital tract.
authors.affiliation: Dipartimento di Scienze Odontostomatologiche e Maxillo-Facciali, Università di Napoli Federico II, Napoli, Italy. luca.ramaglia@unina.it
authors.forename: Luca
authors.initials: L
authors.lastname: Ramaglia
authors.forename: Fabio
authors.initials: F
authors.lastname: Morgese
authors.forename: Marcella
authors.initials: M
authors.lastname: Pighetti
authors.forename: Raffaele
authors.initials: R
authors.lastname: Saviano
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics / Q000473:pathology*; D002648:Child; D002899:Chromosomes, Human, Pair 9; D019465:Craniofacial Abnormalities / Q000473:pathology; D005260:Female; D006801:Humans; D008336:Mandibular Diseases / Q000473:pathology; D009095:Mullerian Ducts / Q000002:abnormalities; D009807:Odontogenic Cysts / Q000473:pathology; D014599:Uterus / Q000002:abnormalities