Gardner Syndrome

  title={Gardner Syndrome},
  author={Edward Juhn and Amor Khachemoune},
  journal={American Journal of Clinical Dermatology},
Gardner syndrome is a variant of familial adenomatous polyposis (FAP) and results in the manifestation of numerous external and internal symptoms including gastrointestinal polyps, osteomas, tumors, and epidermoid cysts. As such, it is highly recommended that physicians conduct full body examinations to catch the key clinical features of the disease when it is suspected. Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the… 
31 Citations
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
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.
Accumulated genetic mutations leading to accelerated initiation and progression of colorectal cancer in a patient with Gardner syndrome
Serial mutations in key genes responsible for initiation and progression of colorectal cancer from a patient with Gardner syndrome are reported.
Spectrum of Hybrid Cysts and Their Clinical Significance
A hybrid cyst is a cutaneous cyst combining different types of keratinization of those seen in the folliculo-sebaceous-apocrine unit, which may be occasionally associated with Gardner syndrome.
Seventeen primary malignant neoplasms involving the skin, ovary, esophagus, colon, oral cavity, and ear canal: a case report and review of the literature
The present case represents 17 primary neoplasms with no associations with hereditary cancer syndrome, and careful follow-up and deliberate cancer screening enabled successful disease management over 17 years from the appearance of the first neoplasm.
Clinical Diagnosis and Atypical Forms of NF1
The NIH clinical diagnostic criteria for NF1 is reviewed with particular emphasis on NF1 in different age groups, and the differential diagnosis of selected syndromes with multiple tumors and those with pigment lesions is addressed.
The clinical features of skin lesions observed in several internal diseases are described, which will be useful to general practitioners, internists and dermatologists in the diagnosis of systemic diseases.
The molecular basis for the most common of these defined syndromes, including familial adenomatous polyposis, hereditary non-polyposis colon cancer, MUTYH associated polyPOSis, Juvenile polypos is, Peutz-Jeghers syndrome, and Cowden's syndrome is delineated.
Clinical Pediatric Dermatology of the Head and Neck
This chapter presents common pediatric dermatologic entities affecting the head and neck, including benign and malignant tumors and cysts, and evidence-based management strategies are reviewed with an emphasis on surgical options.


Familial polyposis coli: clinical manifestations, evaluation, management and treatment.
A case is presented and the evaluation, management and treatment of Gardner's syndrome is reviewed, which is a variant of FAP that presents extracolonic manifestations, including desmoid tumors, osteomas, epidermoid cysts, various soft tissue tumors, and a predisposition to thyroid and periampullary cancers.
Familial Adenomatous Polyposis
Endoscopic screening of FAP probands and relatives is advocated as early as the ages of 10–12 yr, with the objective of reducing the occurrence of colorectal cancer.
Pilomatricoma‐Like Changes in the Epidermoid Cysts of Gardner Syndrome with an APC Gene Mutation
In conclusion, Gardner syndrome is an autosomal dominant disorder characterized by familial adenomatous colonic polyposis with several extra-intestinal manifestations including multiple epidermoid cysts, and pilomatricomas might be caused by a mutation of the APC tumor suppressor gene.
Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.
The results suggest that the severity of some of the features of Gardner syndrome may correlate with genotype in FAP.
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome.
  • W. Foulkes
  • Medicine
    QJM : monthly journal of the Association of Physicians
  • 1995
A variety of APC mutations are recognized, which can be associated with the character and severity of the clinical syndromes, although Turcot syndrome may have other causes.
Turcot's syndrome and familial adenomatous polyposis associated with brain tumor: review of related literature
Investigation of clinical manifestations in 124 patients with a possible Turcot's syndrome found differences in colonic manifestation, histologic type of glioma, mode of inheritance, frequency of parental consanguinity, skin lesions and other accompanying lesions suggested thatglioma-polyposis syndrome should be classified as follows.
Familial adenomatous polyposis
Surgical management and advances in understanding at a molecular level are discussed, as well as the problems relating to screening for FAP and the implications of the new knowledge are discussed.
Attenuated familial adenomatous polyposis (AFAP): a review of the literature
Until further research has provided a more substantiated knowledge about AFAP changes in current surveillance and treatment are not recommended, but prophylactic colectomy with ileorectal anastomosis (IRA) is recommended in most patients.
Epidermoid cysts, polyposis coli and Gardner's syndrome
One hundred and ninety‐six members of 15 families with Gardner's syndrome were investigated to determine the type of skin cyst that is part of this syndrome. These were shown to be epidermoid cysts
Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts.
  • E. Gardner
  • Medicine
    American journal of human genetics
  • 1962
A pattern of inheritance characteristic of a single dominant gene was established for intestinal polyposis and other manifestations of the syndrome in Kindred109 to suggest the prognosis for current members of Kindred 109 and their descendants.