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Gastric leiomyoma in a child with Gorlin–Goltz syndrome: First pediatric case
Author(s) -
Virgone Calogero,
Decker Emily,
Mitton Sally G.,
Mansour Sahar,
Giuliani Stefano
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12772
Subject(s) - medicine , nevoid basal cell carcinoma syndrome , leiomyoma , basal cell carcinoma , presentation (obstetrics) , odontogenic , pathology , granular cell , medulloblastoma , basal (medicine) , dermatology , basal cell , radiology , insulin , central nervous system
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.