gardner syndrome

Summary

Summary: A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.

Top Publications

  1. Bilkay U, Erdem O, Ozek C, Helvaci E, Kilic K, Ertan Y, et al. Benign osteoma with Gardner syndrome: review of the literature and report of a case. J Craniofac Surg. 2004;15:506-9 pubmed
    b>Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant disease characterized by gastrointestinal polyps that develop in the colon as well as in the stomach and upper intestine (duodenum), multiple osteomas,..
  2. Link M, Driscoll C, Giannini C. Isolated, giant cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome: case report. Neurosurgery. 2002;51:221-5; discussion 225-6 pubmed
    We report the case of a 29-year-old man with Gardner syndrome and an isolated, giant cerebellopontine angle craniopharyngioma...
  3. Porru D, Stancati S, Giliberto G, Gerardini M, Corinti M, Dionigi P, et al. Bilateral ureteral compression by multiple abdominal desmoid tumors in Gardner syndrome: case report and literature review. Urology. 2004;64:1031 pubmed
    A 28-year-old man with Gardner syndrome was admitted to our Department because of multiple abdominal masses...
  4. Lee B, Lee W, Oh S, Min S, Kim E. A case report of Gardner syndrome with hereditary widespread osteomatous jaw lesions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;107:e68-72 pubmed publisher
    b>Gardner syndrome (GS) is an abnormality of familial adenomatous polyposis accompanied by characteristic jaw lesions...
  5. Gu G, Wang S, Wei X, Bai L. Diagnosis and treatment of Gardner syndrome with gastric polyposis: a case report and review of the literature. World J Gastroenterol. 2008;14:2121-3 pubmed
    b>Gardner syndrome (GS) is an autosomal dominant disease characterized by the presence of colonic polyposis, osteoma and soft tissue tumors...
  6. Juhn E, Khachemoune A. Gardner syndrome: skin manifestations, differential diagnosis and management. Am J Clin Dermatol. 2010;11:117-22 pubmed publisher
    b>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...
  7. Ramaglia L, Morgese F, Filippella M, Colao A. Oral and maxillofacial manifestations of Gardner's syndrome associated with growth hormone deficiency: case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103:e30-4 pubmed
    ..We present a case of oral and maxillofacial manifestations in an adult patient affected by GS associated with growth hormone deficiency, a hitherto unreported association. The possible pathogenic mechanisms are discussed...
  8. Pujol R, Casanova J, Egido R, Pujol J, de Moragas J. Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome?. Pediatr Dermatol. 1995;12:331-5 pubmed
    ..only after the well-known association of pilomatricoma-like changes in epidermal cysts in patients with Gardner syndrome was considered...
  9. Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg A. Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet. 1986;25:473-6 pubmed
    ..carcinoma, horseshoe kidney, absence of left lobe of the liver, agenesis of the gallbladder, and possible Gardner syndrome revealed a constitutional marker chromosome due to del(5)(q13q15) or del(5)(q15q22)...

More Information

Publications95

  1. Turina M, Pavlik C, Heinimann K, Behrensmeier F, Simmen H. Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years. Int J Colorectal Dis. 2013;28:865-72 pubmed publisher
    Screening of Gardner syndrome (GS) patients is tailored towards prevention of colorectal cancer (CRC). However, many patients suffer from desmoid tumors, which are challenging to treat due to invasive growth and local recurrence...
  2. Luxwolda M, de Wit L, Karthaus A. [Abdominal pain and rectal blood loss]. Ned Tijdschr Tandheelkd. 2009;116:467-70 pubmed
    ..Dentists and oral surgeons should be aware of this rare syndrome in a patient with orofacial osteomas, especially if the patient has a familial risk of adenomatous polyposis. ..
  3. Nakamura Y, Nishisho I, Kinzler K, Vogelstein B, Miyoshi Y, Miki Y, et al. Mutations of the adenomatous polyposis coli gene in familial polyposis coli patients and sporadic colorectal tumors. Princess Takamatsu Symp. 1991;22:285-92 pubmed
    ..This is the first case of the disruption of a tumor suppressor gene by the insertion of a movable genetic element. ..
  4. Pena A, Chaudhry A, Seidman R, Peyster R, Bangiyev L. Ectopic craniopharyngioma of the fourth ventricle in a patient with Gardner syndrome. Clin Imaging. 2016;40:232-6 pubmed publisher
    ..We report a craniopharyngioma of the fourth ventricle in a 20-year-old man with Gardner syndrome. Imaging characteristics of craniopharyngiomas and fourth ventricle lesions are discussed with a review of ..
  5. Ng T, Yang M, Chen Y, Chang C. Resolution of hydronephrosis due to massive mesenteric fibromatosis using cyclo-oxygenase 2 inhibitors. Urology. 2007;70:591.e3-4 pubmed
    ..The hydronephrosis and mesenteric fibromatosis improved modestly with long-term celecoxib (200 mg twice daily). Our case also highlights the importance of performing a detailed examination in patients with hydronephrosis. ..
  6. Huss S, Nehles J, Binot E, Wardelmann E, Mittler J, Kleine M, et al. ?-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology. 2013;62:294-304 pubmed publisher
    ..Catenin-negative desmoids either carried a CTNNB1 mutation or were associated with Gardner syndrome. Our study provides evidence that some clinical and genetic features of mesenteric desmoids differ from those ..
  7. Felner E, Taweevisit M, Gow K. Hyperaldosteronism in an adolescent with Gardner's syndrome. J Pediatr Surg. 2009;44:e21-3 pubmed publisher
    ..Adrenal masses in Gardner's syndrome are rare, and few have displayed clinical manifestations. We report a 16-year-old female with Gardner's syndrome, who had an aldosterone-secreting tumor resected via laparoscopic adrenalectomy. ..
  8. Puetz J, Fete T. Platelet function disorder in Gardner-Diamond syndrome: a case report and review of the literature. J Pediatr Hematol Oncol. 2005;27:323-5 pubmed
    ..To date, all patients with Gardner-Diamond syndrome reported to have undergone platelet aggregation studies have had abnormal results. ..
  9. Vaynsthein G, Gurlanik L, Markel A. Gardner's syndrome in a 75-year-old woman. Intern Med. 2008;47:1491-4 pubmed
    ..We describe a 75-year-old patient with the typical lesions of Gardner's syndrome who survived without treatment for the disease for more than 40 years after diagnosis. ..
  10. Silva C, Moraes P, Furuse C, Junqueira J, Thomaz L, de Araujo V. Gardner syndrome with no clinical family history. J Craniofac Surg. 2009;20:1186-9 pubmed publisher
    b>Gardner syndrome, a variant of familial adenomatous polyposis, is a hereditary disorder inherited as an autosomal dominant with high penetrance and variable expression that is caused by a mutation of the adenomatous polyposis coli gene...
  11. Oku T, Takayama T, Sato Y, Sato Y, Takada K, Hayashi T, et al. A case of Gardner syndrome with a mutation at codon 1556 of APC: a suggested case of genotype-phenotype correlation in dental abnormality. Eur J Gastroenterol Hepatol. 2004;16:101-5 pubmed
    A 25-year-old man with suspected Gardner syndrome was introduced to our hospital by a dentist who, during examination of the patient, had found dental dysplasias and multiple osteomas of the jaw...
  12. Kennedy R, Thavaraj S, Diaz Cano S. An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region. Head Neck Pathol. 2017;11:364-376 pubmed publisher
    ..syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
  13. Giuliani A, Demoro M, Ciardi A, Scimò M, Galati F, Lonardo M, et al. Mesenteric fibromatosis. Case report. J Exp Clin Cancer Res. 2007;26:425-8 pubmed
    ..On histology, some morphological features of the neoplasm were in common with a GIST. Definitive diagnosis was made, postoperatively, on the basis of immunohistochemical findings. ..
  14. Nandakumar G, Morgan J, Silverberg D, Steinhagen R. Familial polyposis coli: clinical manifestations, evaluation, management and treatment. Mt Sinai J Med. 2004;71:384-91 pubmed
    ..Frequent endoscopy is needed to prevent the former, while there is no definitive treatment available yet for the latter. The following article presents a case and reviews the evaluation, management and treatment of Gardner's syndrome. ..
  15. Dela Cruz F, Diolaiti D, Turk A, Rainey A, Ambesi Impiombato A, Andrews S, et al. A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinoma. Genome Med. 2016;8:116 pubmed publisher
    ..WES revealed a novel germline frameshift variant (p.E1554fs) in APC, establishing a diagnosis of Gardner syndrome, along with a somatic nonsense (p.R790*) APC mutation in the tumor...
  16. Bisgaard M, Bulow S. Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet A. 2006;140:200-4 pubmed
    b>Gardner syndrome is characterized by the triad of colorectal adenomas, soft and hard tissue tumors...
  17. Smud D, Augustin G, Kekez T, Kinda E, Majerovic M, Jelincic Z. Gardner's syndrome: genetic testing and colonoscopy are indicated in adolescents and young adults with cranial osteomas: a case report. World J Gastroenterol. 2007;13:3900-3 pubmed
    ..If the diagnosis is positive all family members should be evaluated for familial adenomatous polyposis. ..
  18. Ben Lagha N, Galeazzi J, Chapireau D, Oxeda P, Bouhnik Y, Maman L. Surgical management of osteoma associated with a familial Gardner's syndrome. J Oral Maxillofac Surg. 2007;65:1234-40 pubmed
  19. Toki H, Inoue M, Motegi H, Minowa O, Kanda H, Yamamoto N, et al. Novel mouse model for Gardner syndrome generated by a large-scale N-ethyl-N-nitrosourea mutagenesis program. Cancer Sci. 2013;104:937-44 pubmed publisher
    ..Notably, the osteomas that develop in the Apc1576 mutant mice recapitulate the lesion observed in Gardner syndrome, a clinical variant of familial adenomatous polyposis...
  20. Núñez Núñez R, Galán Gómez E, Moreno Hurtado C, Romero Albillo A, Santamaria Ossorio J. [Familial adenomatous polyposis: Gardner's syndrome]. Cir Pediatr. 2006;19:111-4 pubmed
    ..The duodenoscopy is essential in the follow up of these patients because of the frequency of duodenal affectation. ..
  21. Alvarez Salgado J, González Llanos Fernández de Mesa F, Villaseñor Ledezma J, Cañizares Méndez M, Paredes Sansinenea I, Rodríguez de Lope Llorca A, et al. [Ectopic craniopharyngioma and Gardner's syndrome: Case report and literature review]. Neurocirugia (Astur). 2017;28:97-101 pubmed publisher
    ..Craniopharyngioma may appear in another location other than the suprasellar region. Its atypical location may be related to Gardner syndrome by still unknown pathogenic mechanisms.
  22. Gabel B, Cleary D, Martin J, Khan U, Snyder V, Sang U H. Unusual and Rare Locations for Craniopharyngiomas: Clinical Significance and Review of the Literature. World Neurosurg. 2017;98:381-387 pubmed publisher
    ..The average age of the patients was 30.8 years. Several patients had Gardner syndrome. Craniopharyngiomas are most often located in the suprasellar region...
  23. Edlich R, Winters K, Britt L, Long W, Gubler K, Drake D. Difficult wounds: an update. J Long Term Eff Med Implants. 2005;15:289-302 pubmed
    ..More recently, carbon dioxide laser treatment, with healing by secondary intention, is proving to be a rapid, efficient, and economic treatment of this difficult wound. ..
  24. Oner A, Pocan S. Gardner's syndrome: a case report. Br Dent J. 2006;200:666-7 pubmed
    ..A case is reported to demonstrate how important it is for general dental practitioners to be aware of the clinical and radiological characteristics of Gardner's syndrome. ..
  25. Greenwood M, Meechan J. General medicine and surgery for dental practitioners. Part 3: gastrointestinal system. Br Dent J. 2003;194:659-63 pubmed
    ..The sequelae of GI disease, for example gastric reflux producing dental erosion, iron deficiency anaemia and treatment such as corticosteroid therapy may all have a bearing on management and choice of anaesthesia. ..
  26. Kenning T, Kanwar V, Qian J, Deshaies E. A de novo desmoid tumor of the surgical site following foramen magnum meningioma resection in a patient with Gardner's Syndrome: a case report and review of the literature. J Neurooncol. 2009;91:107-11 pubmed publisher
    ..This case report emphasizes the need for careful follow-up in patients with Gardner's Syndrome who undergo resection of a meningioma or other neurosurgical procedure. Adjuvant therapy may be of value in these patients. ..
  27. Bronner M. Gastrointestinal polyposis syndromes. Am J Med Genet A. 2003;122A:335-41 pubmed
    ..genetests.org/. The website is available at no cost and is a publicly funded medical genetics resource for health care providers and researchers. ..
  28. Patel H, Rees R. Unicystic ameloblastoma presenting in Gardner's syndrome: a case report. Br Dent J. 2005;198:747-8 pubmed
    ..An unusual case of a unicystic Ameloblastoma mimicking a dentigerous cyst in a 14-year-old patient with Gardner's Syndrome is described. Gardner's Syndrome is associated with multiple tumours and dental anomalies. ..
  29. Ripari M, Cicconetti A, Sed M, Maggiore C. [Gardner's syndrome. A case report]. Minerva Stomatol. 2001;50:229-32 pubmed
    ..A personal case observed at the Odontostoma-tological Clinic of the University of Rome La Sapienza is reported. ..
  30. Burke M, Opeskin K. Sudden death from hyponatremia and hypokalemia in a woman with Gardner syndrome. Am J Forensic Med Pathol. 2001;22:84-7 pubmed
    The authors present the case of a 39-year-old woman with Gardner syndrome who died from marked hyponatremia and hypokalemia...
  31. Linos K, Sedivcová M, Cerná K, Sima R, Kazakov D, Nazeer T, et al. Extra nuchal-type fibroma associated with elastosis, traumatic neuroma, a rare APC gene missense mutation, and a very rare MUTYH gene polymorphism: a case report and review of the literature*. J Cutan Pathol. 2011;38:911-8 pubmed publisher
    ..In this patient, genetic predisposition coupled with repetitive, localized trauma and collagen degeneration may have provided the stimulus for the development of extra nuchal-type fibroma. ..
  32. Lilli C, Marinucci L, Bellocchio S, Ribatti D, Balducci C, Baroni T, et al. Effects of transforming growth factor-beta1 and tumour necrosis factor-alpha on cultured fibroblasts from skin fibroma as modulated by toremifene. Int J Cancer. 2002;98:824-32 pubmed
  33. Guimarães K, Cavalcante J, Ferraro Bezerra M, Silva D, de Holanda Vasconcellos R, do Egito Vasconcelos B. Peripheral osteoma bilateral of the mandible without association with Gardner syndrome. J Craniofac Surg. 2012;23:e83-6 pubmed publisher
    ..Periodical clinical and radiographic follow-ups after surgery are advised. ..
  34. Waddell W, Kirsch W. Testolactone, sulindac, warfarin, and vitamin K1 for unresectable desmoid tumors. Am J Surg. 1991;161:416-21 pubmed
    ..Warfarin may function as a protonophore to acidify the cytoplasm and prevent the alkalinization that is necessary to initiate DNA synthesis and cell cycle progression, again an impairment of the transcription process...
  35. Michal M. Non-nuchal-type fibroma associated with Gardner's syndrome. A hitherto-unreported mesenchymal tumor different from fibromatosis and nuchal-type fibroma. Pathol Res Pract. 2000;196:857-60 pubmed
    ..Immunohistochemically the tumor was vimentin positive and smooth muscle actin, muscle-specific actin, S-100 protein, cytokeratin and desmin negative...
  36. Macchia G, Trombetta D, Möller E, Mertens F, Storlazzi C, Debiec Rychter M, et al. FOSL1 as a candidate target gene for 11q12 rearrangements in desmoplastic fibroblastoma. Lab Invest. 2012;92:735-43 pubmed publisher
  37. Brown C, Jeffrey B, Korentager R, Hughes K. Desmoid tumors of the bilateral breasts in a patient without Gardner syndrome: a case report and review of literature. Ann Plast Surg. 2012;69:220-2 pubmed publisher
    ..a case report of a patient with bilateral breast desmoids and shoulder desmoid without evidence of FAP or Gardner syndrome. This case report explores the clinical, radiographic, pathologic, and treatment elements for desmoid tumors ..
  38. Jones A, Alderson G, McGuff H. Oral and maxillofacial pathology case of the month. Osteoma, associated with Gardner syndrome. Tex Dent J. 2004;121:1194-5, 1202 pubmed
  39. Suh I, Guerrero M, Kebebew E. Gene-expression profiling of adrenocortical carcinoma. Expert Rev Mol Diagn. 2009;9:343-51 pubmed
    ..In this article, we discuss the limitations of the clinical management of ACC, and the gene-expression profile studies that have attempted to address these limitations...
  40. Lin O, Biehl T, Jiranek G, Kozarek R. Explosion from argon cautery during proctoileoscopy of a patient with a colectomy. Clin Gastroenterol Hepatol. 2012;10:1176-1178.e2 pubmed publisher
    ..This case shows the need for adequate bowel preparation if cautery is to be used, even in patients who have undergone a colectomy...
  41. Filipe B, Albuquerque C, Bik E, Lage P, Rodrigues P, Vossen R, et al. APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case. Dis Colon Rectum. 2009;52:1516-20; discussion 1520-1 pubmed publisher
    We report a case of somatic APC mosaicism in an person with a clinical diagnosis of Gardner syndrome with features of attenuated polyposis coli and with an uninformative family history...
  42. Sayan N, Ucok C, Karasu H, Gunhan O. Peripheral osteoma of the oral and maxillofacial region: a study of 35 new cases. J Oral Maxillofac Surg. 2002;60:1299-301 pubmed
    ..The purpose of this article was to present 35 new cases of peripheral osteoma of the oral and maxillofacial region with an analysis of the literature...
  43. Woo V, Abdelsayed R. Oral manifestations of internal malignancy and paraneoplastic syndromes. Dent Clin North Am. 2008;52:203-30, x pubmed
  44. Chacon G, Ugalde C, Jabero M. Genetic disorders and bone affecting the craniofacial skeleton. Oral Maxillofac Surg Clin North Am. 2007;19:467-74, v pubmed
    ..This article focuses on the most common disorders in this group, which at the same time are the most clinically significant because of their incidence and degree of involvement of the craniofacial skeleton...
  45. Fichter A, Wolff K, Mucke T. [Mandibular osteoma in a case of Gardner's syndrome]. HNO. 2011;59:523-7 pubmed publisher
    ..The disease pattern should be known to the treating physician, since extraintestinal manifestations usually occur long before intestinal polyposis and early diagnosis is critical for the prognosis...
  46. Madani M, Madani F. Gardner's syndrome presenting with dental complaints. Arch Iran Med. 2007;10:535-9 pubmed
    ..This report describes an unusual presentation of a patient seeking extraction of teeth only, while he was totally unaware of potentially deadly situation...
  47. Boffano P, Bosco G, Gerbino G. The surgical management of oral and maxillofacial manifestations of Gardner syndrome. J Oral Maxillofac Surg. 2010;68:2549-54 pubmed publisher
  48. Spoto S, De Galasso L, Costantino S. [Colorectal polyps]. Clin Ter. 2003;154:217-9 pubmed
  49. Kozarek R. Endoscopic resection of ampullary neoplasms. J Gastrointest Surg. 2004;8:932-4 pubmed
  50. Ryan J. Premalignant conditions of the small intestine. Semin Gastrointest Dis. 1996;7:88-93 pubmed
  51. Fotiadis C, Tsekouras D, Antonakis P, Sfiniadakis J, Genetzakis M, Zografos G. Gardner's syndrome: a case report and review of the literature. World J Gastroenterol. 2005;11:5408-11 pubmed
  52. Kovac M, Tomka M, Ciernikova S, Stevurkova V, Valachova A, Zajac V. Multiple gynecologic tumors as rare associated phenotypes of FAP/Gardner syndrome in a family with the novel germline mutation in the APC gene. Clin Genet. 2006;69:183-6 pubmed
  53. Kertész E, Túri J, Gyenes V, Vajda A. [Gardner-syndrome: case report]. Fogorv Sz. 2005;98:213-5 pubmed
    ..The major symptoms of Gardner-syndrome are described by the authors (multiple osteomas, desmoid tumors, colon polyps with malignant tendency) with a case appearing in their department. The importance of early diagnosis is also emphasized...
  54. Schlemmer M. Desmoid tumors and deep fibromatoses. Hematol Oncol Clin North Am. 2005;19:565-71, vii-viii pubmed
    Desmoid tumors (also called deep fibromatoses) are rare benign tumors associated with pregnancy and Gardner syndrome. These tumors are characterized by bland-appearing fibroblasts, indistinct margins, and an ability to cause pathology by ..
  55. Cankaya A, Erdem M, Isler S, Cifter M, Olgac V, Kasapoğlu C, et al. Oral and maxillofacial considerations in Gardner's Syndrome. Int J Med Sci. 2012;9:137-41 pubmed publisher
    ..We report a case of a 25-year old male patient with Gardner's syndrome who has not any intestinal polyps but osteomas in the mandible and jaw deformalities...
  56. Smarrito S, Salmon R. [Desmoid tumor in a male breast in the context of Gardner's syndrome. Case report]. Ann Chir. 2005;130:40-3 pubmed
    ..Coloscopy is indicated in the presence of mammary fibromatosis, to look for associated multiple polyps, confirming the diagnosis of Gardner's syndrome...
  57. Cribier B. [Diseases associated with adnexal tumors. I--Follicular tumors]. Ann Dermatol Venereol. 1999;126:270-9 pubmed
  58. Michal M, Boudova L, Mukensnabl P. Gardner's syndrome associated fibromas. Pathol Int. 2004;54:523-6 pubmed
    ..Therefore, the term Gardner's fibroma should not be used as a specific name for NTF arising in patients with Gardner's syndrome as suggested in the most recent WHO classification of soft tissue and bone tumors...
  59. Urabe K, Xia J, Masuda T, Moroi Y, Furue M, Matsumoto T. Pilomatricoma-like changes in the epidermoid cysts of Gardner syndrome with an APC gene mutation. J Dermatol. 2004;31:255-7 pubmed
  60. Baba S. [Molecular biological background of FAP and HNPCC, and treatment strategies of both diseases depend upon genetic information]. Nihon Geka Gakkai Zasshi. 1998;99:336-44 pubmed
    ..b>Gardner Syndrome is now categorized as subtype of FAP. Turcot Syndrome is now known as a heterogeneous disease...
  61. Bybel B, Mattar A. Scintigraphic and radiographic appearance of osteomas in Gardner's syndrome. Clin Nucl Med. 2003;28:247-8 pubmed
  62. Ishida T, Abe S, Miki Y, Imamura T. Intraosseous pilomatricoma: a possible rare skeletal manifestation of Gardner syndrome. Skeletal Radiol. 2007;36:693-8 pubmed
    Here we report a case of intraosseous pilomatricoma in a patient with Gardner syndrome. A 17-year-old boy with a family history of Gardner syndrome and multiple cutaneous epidermoid cysts presented with pain in the region below the knee ..
  63. Scott F, Monkemuller K, Lee R, Karnam U. Gardner's syndrome in an HIV-infected patient. Gastrointest Endosc. 2003;57:429-31 pubmed
  64. McNab A. Orbital osteoma in Gardner's syndrome. Aust N Z J Ophthalmol. 1998;26:169-70 pubmed
    ..To report the association of an orbital osteoma with Gardner's syndrome (familial polyposis coli leading to carcinoma, multiple osteomas and skin and soft tissue tumours)...
  65. Oudot C, Defachelles A, Minard Colin V, Olschwang S, Fourcade L, Helfre S, et al. [Desmoid tumors in children: current strategy]. Bull Cancer. 2013;100:518-28 pubmed publisher
    ..If not, medical treatments (cytotoxic or not) are rather discussed. Radiation therapy is rarely an option in children in this benign tumor. Authors present accurate knowledge of this disease in children...
  66. Arendt D, Frost R, Whitt J, Palomboro J. Multiple radiopaque masses in the jaws. J Am Dent Assoc. 1989;118:349-51 pubmed
    ..Review of the literature showed the oral findings reported here are not common and that enzyme assays can help detect polyps at an early stage of this complex syndrome...
  67. Tulchinsky H, Keidar A, Strul H, Goldman G, Klausner J, Rabau M. Extracolonic manifestations of familial adenomatous polyposis after proctocolectomy. Arch Surg. 2005;140:159-63; discussion 164 pubmed
    ..Extracolonic manifestations have a major effect on the morbidity and mortality of patients with familial adenomatous polyposis following proctocolectomy...
  68. Buch B, Noffke C, de Kock S. Gardner's syndrome--the importance of early diagnosis: a case report and a review. SADJ. 2001;56:242-5 pubmed
    ..Regular surveillance by means of colonoscopies must be carried out on all individuals suspected of having the disease in order to implement timeous life-saving prophylaxis...
  69. Traboulsi E. Ocular manifestations of familial adenomatous polyposis (Gardner syndrome). Ophthalmol Clin North Am. 2005;18:163-6, x pubmed
    ..By age 35 years, 95% of patients have polyps. Gardner syndrome is the eponym given to a subgroup of FAP with extracolonic manifestations, such as pigmented ocular fundus ..
  70. Kanitakis J. Adnexal tumours of the skin as markers of cancer-prone syndromes. J Eur Acad Dermatol Venereol. 2010;24:379-87 pubmed publisher
    ..The main tumours falling into this category and their associated syndromes are reviewed here...
  71. Gomez Garcia E, Knoers N. Gardner's syndrome (familial adenomatous polyposis): a cilia-related disorder. Lancet Oncol. 2009;10:727-35 pubmed publisher
    ..Understanding extracolonic manifestations in the context of FAP as a ciliary disorder might add new therapeutic options for patients with Gardner's syndrome...
  72. Neri S, Bruno C, Mondati E, Scavo S. An unusual case of genodermatosis with familial gastrointestinal polyposis, angiomatous malformation and ascites. Dermatology. 2002;205:57-9 pubmed
    ..We describe an unusual case of intestinal adenomatous polyposis, retinal hypertrophy, fibromas of the skin, bone and thyroid tumors accompanied by congenital arteriovenous malformations with lethal complications...
  73. Zanfi C, Lauro A, Cescon M, Dazzi A, Ercolani G, Grazi G, et al. Daclizumab and alemtuzumab as induction agents in adult intestinal and multivisceral transplantation: rejection and infection rates in 40 recipients during the early postoperative period. Transplant Proc. 2010;42:35-8 pubmed publisher
    ..Induction therapy has enabled improvement in graft and patient survival rates...
  74. Haider H, Tzakis A, Manoharan M, Selvaggi G, Nishida S, Levi D, et al. Ureteral reconstruction and bladder augmentation using intestinal allograft in a modified multivisceral transplant patient. Am J Transplant. 2006;6:1968-71 pubmed
    ..We herein report the use of a segment of transplanted ileum for this purpose in a patient with Gardner's syndrome who underwent multivisceral transplantation. To our knowledge this is the first such case report...
  75. Coffin C, Hornick J, Zhou H, Fletcher C. Gardner fibroma: a clinicopathologic and immunohistochemical analysis of 45 patients with 57 fibromas. Am J Surg Pathol. 2007;31:410-6 pubmed
    ..The proportion of sporadic GAFs that have APC mutation remains to be determined...
  76. Koppány F, Joób Fancsaly A, Pataky L, Martonffy K, Ujpál M, Németh Z, et al. [Gardner syndrome. Case reports]. Fogorv Sz. 2002;95:253-6 pubmed
    ..The earliest symptoms suspecting the clinical picture are usually dental and/or mandibular lesions and draw the attention to the highly malignant polyposis...
  77. Kadiian K, Stoinov S, Penchev P, Mikhova A, Damianov D, Aleksandrova A, et al. [Polyposis of the colon and cancer]. Khirurgiia (Sofiia). 2004;60:42-4 pubmed
    ..Of three patients under surveillance with the Peutz-Jeghers syndrome, surgery has been done on one female patient with ileus and bleeding large polyps...
  78. Woldenberg Y, Nash M, Bodner L. Peripheral osteoma of the maxillofacial region. Diagnosis and management: a study of 14 cases. Med Oral Patol Oral Cir Bucal. 2005;10 Suppl 2:E139-42 pubmed
    ..The purpose of the article was to present 14 new cases of peripheral osteoma and to evaluate the diagnosis and management of peripheral osteoma of the maxillofacial region with an analysis of the literature...
  79. Wijn M, Keller J, Brand H. [Oral and maxillofacial manifestations of familial adenomatosis polyposis. Gardner's syndrome]. Ned Tijdschr Tandheelkd. 2005;112:340-4 pubmed
    ..An early diagnosis of this disease is important because it could mean a better prognosis for the patient. This review describes the oral and maxillofacial symptoms of FAP, and its potential implications for dental treatment...
  80. Halawi A, Maley J, Robinson R, Swenson C, Graham S. Craniofacial osteoma: clinical presentation and patterns of growth. Am J Rhinol Allergy. 2013;27:128-33 pubmed publisher
    ..This study was designed to investigate the clinical features and the growth rate of craniofacial osteomas...
  81. Chelaifa K, Bouzaidi K, Chouaib S, Azaïz O, Messaoud M, Slim R. Adrenal adenoma in a patient with Gardner's syndrome. A case report. Acta Radiol. 2003;44:158-9 pubmed
    ..We report a case of adrenal adenoma in a 37-year-old woman with Gardner's syndrome. Although extraintestinal neoplasms, particularly adrenal lesions, are a rare association, an increased awareness is important...
  82. Basu S, Nair N, Banavali S. Uptake characteristics of fluorodeoxyglucose (FDG) in deep fibromatosis and abdominal desmoids: potential clinical role of FDG-PET in the management. Br J Radiol. 2007;80:750-6 pubmed
    ..The findings in this report can be extrapolated and have implications for studying the utility of FDG-PET in defining aggressiveness, guiding biopsy and defining excision site in a large tumour and in monitoring therapy in fibromatosis...
  83. Herford A, Stoffella E, Tandon R. Osteomas involving the facial skeleton: a report of 2 cases and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013;115:e1-6 pubmed publisher
    ..The etiology is often multifactorial. It could be genetic or congenital, (Gardner syndrome) or related to endocrine disorders, chronic inflammatory processes, or traumas...
  84. Meyer C, Becker R, Schmidt J, Kroll P. [When is congenital hypertrophy of the retinal pigment epithelium (CHRPE) associated with the Gardner's syndrome? An overview with clinical examples]. Klin Monbl Augenheilkd. 2002;219:644-8 pubmed
    ..Ophthalmic funduscopy is very important. Patients with more than 3 CHRPE in one eye or a bilateral CHRPE, as well as patients with a positive family history and one unilateral solid CHRPE require further gastroenterological evaluation...
  85. Vriens M, Suh I, Moses W, Kebebew E. Clinical features and genetic predisposition to hereditary nonmedullary thyroid cancer. Thyroid. 2009;19:1343-9 pubmed publisher
    ..The goal of this article was to review our current knowledge on the hereditary nonmedullary thyroid cancer...
  86. Brucoli M, Giarda M, Benech A. Gardner syndrome: presurgical planning and surgical management of craniomaxillofacial osteomas. J Craniofac Surg. 2011;22:946-8 pubmed publisher
    b>Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps and extraintestinal manifestations...