External manifestations of Gardner’s syndrome as the presenting clinical entity

Agrawal, Deepak; Newaskar, Vilas; Shrivastava, Sanket; Nayak, Prathibha Anand

doi:10.1136/bcr-2013-200293

Cited by 20 publications

(23 citation statements)

References 8 publications

(4 reference statements)

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“…7 A wide array of FAP-associated findings have since been described including bone abnormalities, thyroid and pancreatic cancers, odontomaxillary complications, and desmoid fibromatosis tumors. [8][9][10][11][12] Gardner syndrome is now of historical interest rather than clinical significance, as these extraintestinal growths are known to be correlated more with mutation location in the APC gene, rather than occurring together in specific families. 5 We provide a review of gastrointestinal features and an in-depth update on clinicopathologic manifestations, immunohistochemical profiles, molecular features, screening and surveillance, and prognoses of extraintestinal entities of FAP.…”

mentioning

confidence: 99%

Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations

Dinarvand

Davaro

Doan³

et al. 2019

Archives of Pathology &Amp; Laboratory Medicine

127

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Context.— Familial adenomatous polyposis (FAP) is a rare genetic disorder with autosomal dominant inheritance, defined by numerous adenomatous polyps, which inevitably progress to colorectal carcinoma unless detected and managed early. Greater than 70% of patients with this syndrome also develop extraintestinal manifestations, such as multiple osteomas, dental abnormalities, and a variety of other lesions located throughout the body. These manifestations have historically been subcategorized as Gardner syndrome, Turcot syndrome, or gastric adenocarcinoma and proximal polyposis of the stomach. Recent studies, however, correlate the severity of gastrointestinal disease and the prominence of extraintestinal findings to specific mutations within the adenomatous polyposis coli gene ( APC), supporting a spectrum of disease as opposed to subcategorization. Advances in immunohistochemical and molecular techniques shed new light on the origin, classification, and progression risk of different entities associated with FAP. Objective.— To provide a comprehensive clinicopathologic review of neoplastic and nonneoplastic entities associated with FAP syndrome, with emphasis on recent developments in immunohistochemical and molecular profiles of extraintestinal manifestations in the thyroid, skin, soft tissue, bone, central nervous system, liver, and pancreas, and the subsequent changes in classification schemes and risk stratification. Data Sources.— This review will be based on peer-reviewed literature and the authors' experiences. Conclusions.— In this review we will provide an update on the clinicopathologic manifestations, immunohistochemical profiles, molecular features, and prognosis of entities seen in FAP, with a focus on routine recognition and appropriate workup of extraintestinal manifestations.

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confidence: 99%

Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations

Dinarvand

Davaro

Doan³

et al. 2019

Archives of Pathology &Amp; Laboratory Medicine

127

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“…v Oral Cavity Some manifestations of GS are observed at the oral cavity level. Between 30 and 75% of GS patients have dental anomalies [9] including dental agenesis, enclosed teeth, delays in tooth eruption, dentigerous cysts, odontomas, supernumerary teeth, root fusion and hypercementosis [5,10]. As can be seen in ( Table 1) the frequency of some types of dental changes is significantly higher in GS patients when compared with the general population.…”

Section: Skinmentioning

confidence: 92%

“…The presence of squamous cysts is considered the most common skin lesion and can appear on the face, scalp and less frequently at the body extremeties. Studies show that 50 to 65% of these patients have multiple cysts that are asymptomatic but may cause inflammation, itching and may even rupture [9,10]. Other lesions such as hepatocellular carcinoma, fibromas, lipomas, leiomyomas, neurofibromatomas and pigmented skin lesions have also been reported, but have no tendency to malignancy [6].…”

Section: Skinmentioning

confidence: 99%

Gardner Syndrome: Complications/Manifestations in the Oral Cavity and Their Relationship with Oral Health

Gazelle¹,

Cardoso²

2020

JDOA

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Gardner syndrome (GS) is a genetic disease, with autosomal dominant transmission, being a phenotypic variant of familial adenomatous polyposis (FAP). FAP is manifested by the development of numerous adenomas in the rectum during adolescence, and in most cases, if not identified and treated at an early stage, lead to colorectal cancer. This syndrome has several phenotypic characteristics and among them some changes in the oral cavity. Thus, the dentist has a preponderant role in the detection of lesions that may be present in the oral cavity in order to make possible an early diagnosis of the disease. Some manifestations of GS are observed at the dental level. Around 30 to 75% of GS patients present dental anomalies including dental agenesis, including teeth, delays in teeth eruption, dentigerous cysts, odontomas, supernumerary teeth, root fusion and hypercementosis. It is possible to see a significant difference in the presence of dental problems between patients with GS and the general population. In order to reduce morbidity and mortality, several types of surgery are used to eliminate the risk of colorectal cancer, preserving neighbouring anatomical functions.

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“…Gardner syndrome is an autosomal dominant inherited disorder with an incidence of 1:8300‐16 000 births, characterized by bone malformation and the development of soft tissue tumors. It is a variant of familial adenomatous polyposis that may involve gastrointestinal polyps, osteomas, desmoid tumors, epidermoid cysts, fibromas, lipomas and retinal lesions . Several dentomaxillofacial disorders such as supernumerary or impacted teeth, odontomas and dentigerous cysts have been described in a substantial number of Gardner syndrome patients …”

Section: Introductionmentioning

confidence: 99%