title: Gastric leiomyoma in a child with Gorlin-Goltz syndrome: First pediatric case.
abstract: Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (MIM 109 400), is a rare genetic condition with a prevalence between 1/56 000 and 1/256 000. Clinical presentation is usually characterized by multiple basal cell carcinomas, odontogenic jaw keratocysts, palmar or plantar pitting and skeletal anomalies. It is furthermore associated with the development of various tumors beside basal cell carcinoma, among which medulloblastoma is the most frequent. Increased incidence of other mesenchymal neoplasms, however, is also well known: recently the first adult case of gastric leiomyoma in GGS was reported, and the inclusion of "fibromas and leiomyomas of other organs" in the minor criteria for the diagnosis was suggested. We report the first case of a pediatric patient with GGS who also developed a gastric leiomyoma: the present case illustrates the need for this change to the diagnostic criteria to encompass the highly variable presentations and phenotype in GGS.
authors.affiliation: Department of Paediatric and Neonatal Surgery, St George's Healthcare NHS Trust and University of London, London, UK.
authors.forename: Calogero
authors.initials: C
authors.lastname: Virgone
authors.affiliation: Department of Paediatric and Neonatal Surgery, St George's Healthcare NHS Trust and University of London, London, UK.
authors.forename: Emily
authors.initials: E
authors.lastname: Decker
authors.affiliation: Department of Paediatric Gastroenterology, St. George's Healthcare NHS Trust and University of London, London, UK.
authors.forename: Sally G
authors.initials: SG
authors.lastname: Mitton
authors.affiliation: SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
authors.affiliation: Department of Paediatric and Neonatal Surgery, St George's Healthcare NHS Trust and University of London, London, UK.
authors.forename: Stefano
authors.initials: S
authors.lastname: Giuliani
mesh_terms: D000293:Adolescent; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis*; D002528:Cerebellar Neoplasms / Q000175:diagnosis*; D005773:Gastroscopy / Q000379:methods*; D006801:Humans; D007889:Leiomyoma / Q000175:diagnosis*; D008297:Male; D009378:Neoplasms, Multiple Primary; D013274:Stomach Neoplasms / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed / Q000379:methods*
keywords: Gorlin-Goltz syndrome; gastric leiomyoma; nevoid basal cell carcinoma syndrome