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.

Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report

“…16 Since then, leiomyomas have infrequently been reported in Gorlin syndrome but in adolescents and adult patients. [17][18][19][20] Although this patient did not meet diagnostic criteria for Gorlin syndrome based on physical examination, the presence of a likely pathogenic SUFU variant raises the possibility of an atypical early presentation of Gorlin syndrome. This is a particularly important consideration given that Gorlin syndrome is not usually diagnosed until adolescence or early adulthood after the emergence of tumors associated with this condition.…”

“…At that time, the diagnosis was made based on the co-occurrence of multiple basal cell nevi 16. Since then, leiomyomas have infrequently been reported in Gorlin syndrome but in adolescents and adult patients 17–20…”

Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome

“…One individual (case 3) presented with a testicular leiomyoma, a rare benign smooth muscle tumour that has not been previously reported in patients with BCNS. Leiomyomas that have been described in BCNS were located in the stomach, in the kidney and in an ovary 17 18. Only in the ovarian leiomyoma mutation analysis was performed and it revealed a second hit in PTCH1 , resulting in LOH 17.…”

Radiological evaluation of odontogenic keratocysts in patients with nevoid basal cell carcinoma syndrome: A review

“…Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant syndrome that has different various expressions in each patient ( Curatolo et al, 2013 , Daneswari and Reddy, 2013 , Fini et al, 2013 , Grundig et al, 2013 , Haenen et al, 2013 , Mohan et al, 2013 , Pol et al, 2013 , Rambocas and Murphy, 2013 , Saulite et al, 2013 , Budincevic et al, 2014 , De Craene et al, 2014 , Friedrich, 2014 , Inani and Mernissi, 2014 , Keceli et al, 2014 , Khan et al, 2014 , Kulkarni et al, 2014 , Larsen et al, 2014 , Mehta et al, 2014 , Mufaddel et al, 2014 , Patankar et al, 2014 , Shephard and Coleman, 2014 , Tarnoki et al, 2014 , Abreu et al, 2015 , Anchlia et al, 2015 , Chandran et al, 2015 , da Silva Pierro et al, 2015 , Galati et al, 2015 , Ganguly et al, 2015 , Grechi et al, 2015 , Hajalioghli et al, 2015 , Lata et al, 2015 , Lazaridou et al, 2015 , Majdoub et al, 2015 , Manjima et al, 2015 , Ojevwe et al, 2015 , Pickrell et al, 2015 , Ramesh et al, 2015 , Hubacek et al, 2016 , Khaliq et al, 2016 , Ozcan et al, 2016 , Ponti et al, 2016 , Ribeiro et al, 2016 , Scalise et al, 2016 , Tandon et al, 2016 , Thomas et al, 2016 , Virgone et al, 2016 , Casari et al, 2017 , da Paz Oliveira et al, 2017 , Mendes-Abreu et al, 2017 , Mendes-Bastos et al, 2017 , Nilesh et al, 2017 , Pennisi et al, 2017 , Sereflican et al, 2017 , Trento et al, 2017 , …”