title: Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.
abstract: Bannayan-Riley-Ruvalcaba syndrome (BRRs) is an overgrowth disorder characterized by macrocephaly, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphic features as well as delayed neuropsychomotor development can also be present. These patients have also a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue (PTEN), and up to 30% of the patients have thyroid involvement consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, or Hashimoto's thyroiditis. Here, we report two cases of BRRs at opposite ends of its phenotypic spectrum: clinical manifestations of the first patient were more severe, while the second one showed only few signs and had no family history of the disease. Both cases developed thyroid disorders detected by thyroid ultrasound screening. We believe that it is important for clinicians, specifically pediatric endocrinologists, to know that this syndrome can appear in very subtle ways and also to be aware that thyroid nodules and intestinal polyps seem to be its most frequently encountered features.
authors.affiliation: University of Torino, Regina Margherita Children Hospital, Department of Pediatrics, Torino, Italy. E-mail: v.peiretti@gmail.com.
authors.forename: Valentina
authors.initials: V
authors.lastname: Peiretti
authors.forename: Alessandro
authors.initials: A
authors.lastname: Mussa
authors.forename: Francesca
authors.initials: F
authors.lastname: Feyles
authors.forename: Gerdi
authors.initials: G
authors.lastname: Tuli
authors.forename: Arianna
authors.initials: A
authors.lastname: Santanera
authors.forename: Cristina
authors.initials: C
authors.lastname: Molinatto
authors.forename: Giovanni Battista
authors.initials: GB
authors.lastname: Ferrero
authors.forename: Andrea
authors.initials: A
authors.lastname: Corrias
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D051059:PTEN Phosphohydrolase / Q000235:genetics; D017354:Point Mutation; D013961:Thyroid Gland / Q000473:pathology*
chemical_list: D051059:PTEN Phosphohydrolase