Abstract
Familial adenomatous polyposis [FAP] is a rare autosomal disorder. FAP presenting with Gardner syndrome is even rarer. Gardner syndrome as the first manifestation of FAP without any prior family history is even scarcer. We hereby report the case of 32 years healthy male referred to our otolaryngology clinic with a neck mass and ultimately diagnosed with a case of Gardner syndrome with FAP and advanced rectal Cancer. The patient had a successful gastrointestinal surgery with follow up chemotherapy. Subsequently the patient was followed up at the gastroenterology, oncology and surgical clinic. Literature searched was done and the extra colonic manifestations of the diseases are highlighted in our discussion.
Highlights
Gardner’s syndrome is a rare variant of familial adenomatous polyposis [Familial Adenomatosis Polypoli (FAP)] which presents with many extracolonic manifestations, such as osteomas of the skull and desmoid tumours of the neck Cankaya AB et al (2012), Seehra et al (2016), Fotiadis C et al (2005)
Gardner’s syndrome is an autosomal dominant disorder localized to the long arm of chromosome 5 [5q21–22] Cankaya AB et al (2012). These patients may present to the otolaryngologist, who must be cognizant of the diagnosis, as patients with Gardner’s syndrome have an almost 100% conversion rate of colonic polyps to adenocarcinoma. This case report is of young man who was diagnosed with Gardner’s syndrome based on his clinical ENT findings
Gardner’s syndrome is caused by a dominantly inherited mutation in the APC gene localised on chromosome 5q21-q22 Dermatologic Manifestations of Gardner Syndrome (2021), Colella DM et al (2016), Charifa A et al (2021)
Summary
Gardner’s syndrome is a rare variant of familial adenomatous polyposis [FAP] which presents with many extracolonic manifestations, such as osteomas of the skull and desmoid tumours of the neck Cankaya AB et al (2012), Seehra et al (2016), Fotiadis C et al (2005). Gardner’s syndrome is an autosomal dominant disorder localized to the long arm of chromosome 5 [5q21–22] Cankaya AB et al (2012). These patients may present to the otolaryngologist, who must be cognizant of the diagnosis, as patients with Gardner’s syndrome have an almost 100% conversion rate of colonic polyps to adenocarcinoma. This case report is of young man who was diagnosed with Gardner’s syndrome based on his clinical ENT findings. The extracolonic features of Gardner’s syndrome will be reviewed in the discussion
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