Gardener-associated fibroma: an unusual cause of upper airway obstruction

Abstract

We present the first case of upper airway obstruction secondary to a retropharyngeal Gardner-associated fibroma (GAF). A 16-month-old infant presented with a 3-month history of worsening dyspnoea and apnoeic episodes. Examination revealed stridor and left-sided retropharyngeal asymmetry. MRI demonstrated a mass in the retropharynx. Tracheostomy and pharyngeal biopsy under anaesthesia were performed, and histology confirmed a diagnosis of GAF. The mass was excised using a transcervical approach, and postoperative recovery was unremarkable. GAF is associated with Gardner’s syndrome (GS) and familial adenomatous polyposis (FAP), both of which are associated with multiple colonic polyps and increased risk of colorectal malignancy. Subsequent testing for an APC mutation seen in GS and FAP was negative in our patient. The details of this unusual presentation of a rare disease are given in addition to a review of the literature.

Gardner-associated fibroma presenting as an unusual floor of mouth mass in a child

“…3 Our patient is the first reported GAF presenting in the floor of mouth. Pinto et al 7 reported a retropharyngeal GAF presenting with upper airway obstruction in a 16-month-old.…”

Gardner syndrome: a mini review

“…[5] Other changes that are potentially associated with Gardner syndrome include loss of DNA methylation, an aberration of the RAS gene (located on chromosome 12), aberration of TP53 gene (chromosome 17) and deletion of the colon cancer gene (chromosome 18). [9][10][11]…”

Seltene Erkrankungen der Nase, der Nasennebenhöhlen und der vorderen Schädelbasis

“…Ein genetischer Zusammenhang mit der Entwicklung des Gardner-Syndroms wurde in einer Mutation des Gens für adenomatöse Polyposis coli (APC) gezeigt, das auf Chromosom 5 liegt. Dieses Tumorsuppressorgen ist für die Produktion des APC-Proteins verantwortlich, welches das Zellwachstum im Zellzyklus reguliert [167][168][169].…”

“…A genetic correlation with the development of Gardner's syndrome was identified in a mutation of the gene for adenomatous polyposis coli (APC) located on chromosome 5. This tumor suppressor gene is responsible for the production of the APC protein regulating the cell growth in the cell cycle [167][168][169].…”