Dermatologic Manifestations of Gardner Syndrome

No Results

No Results


Gardner syndrome, a variant of familial adenomatous polyposis (FAP), [1] is an autosomal dominant disease characterized by GI polyps, multiple osteomas, and skin and soft tissue tumors. Cutaneous findings [2] of Gardner syndrome include epidermoid cysts, desmoid tumors, and other benign tumors. Polyps have a 100% risk of undergoing malignant transformation (see the figure below); consequently, early identification of Gardner syndrome is critical. [3, 4]

Gardner syndrome is genetically linked to band 5q21, the adenomatous polyposis coli locus. [5] FAP and Gardner syndrome are believed to be variants of the same condition. The wider spectrum of abnormalities found in Gardner syndrome may represent variable penetrance of a common genetic mutation.

The cause of Gardner syndrome is genetic, with autosomal dominant inheritance.

In the United States, one person per million population is diagnosed with Gardner syndrome. The incidence of FAP is 1 case per 8000 people. The most common cutaneous finding in patients with Gardner syndrome is epidermoid cysts (50-65%).

Although colonic polyps begin to form in puberty, the average age at Gardner syndrome diagnosis is 22 years. Osteoma formation precedes polyposis. Usually, progression to malignancy is observed in patients aged 30-50 years. The average age by which malignancy is diagnosed is 39.2 years.

With adequate screening, long-term control of colorectal tumors is possible, with desmoid tumors determining the survival and quality of life for many patients. [6]  Unless surgical transection is performed, GI polyps may progress to malignancy in almost 100% of Gardner syndrome patients (rates vary from 58-100% in studies).

For patient education resources, see the Cancer and Tumors Center, as well as Colon Cancer.

Gu GL, Wang SL, Wei XM, Bai L. Diagnosis and treatment of Gardner syndrome with gastric polyposis: a case report and review of the literature. World J Gastroenterol. 2008 Apr 7. 14(13):2121-3. [Medline]. [Full Text].

Ascari-Raccagni A, Baldari U, Righini MG. Cutaneous symptoms of Gardner’s syndrome. J Eur Acad Dermatol Venereol. 1999 Jan. 12(1):80-1. [Medline].

Hood AB, Krush AJ. Clinical and dermatologic aspects of the hereditary intestinal polyposes. Dis Colon Rectum. 1983 Aug. 26(8):546-8. [Medline].

Koh KJ, Park HN, Kim KA. Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts. Imaging Sci Dent. 2016 Dec. 46 (4):267-272. [Medline].

Elkharwily A, Gottlieb K. The pancreas in familial adenomatous polyposis. JOP. 2008 Jan 8. 9(1):9-18. [Medline].

Turina M, Pavlik CM, Heinimann K, Behrensmeier F, Simmen HP. 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 Jun. 28(6):865-72. [Medline].

Madani M, Madani F. Gardner’s syndrome presenting with dental complaints. Arch Iran Med. 2007 Oct. 10(4):535-9. [Medline].

Adisen MZ, Okkesim A, Misirlioglu M. The importance of early diagnosis of gardner’s syndrome in dental examination. Niger J Clin Pract. 2018 Jan. 21 (1):114-116. [Medline].

Acar T, Efe D, Gemici K, Gölen M. Co-occurrence of thoracolumbar intramedullary lipoma and intracranial lipoma during Gardner’s syndrome: a rare occurrence. Acta Neurochir (Wien). 2015 Jun 9. [Medline].

Pinheiro LV, Fagundes JJ, Coy CS, Cabello C, Toro I, Michellino M, et al. Multiple desmoid tumors in a patient with Gardner’s syndrome – Report of a case. Int J Surg Case Rep. 2014 Apr 18. 5(7):370-374. [Medline].

Lee BD, Lee W, Oh SH, Min SK, Kim EC. A case report of Gardner syndrome with hereditary widespread osteomatous jaw lesions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009 Mar. 107(3):e68-72. [Medline].

Singh K, Singh A, Kumar P, Gupta N. Prosthodontic management of a patient with Gardner’s syndrome: A clinical case report. Dent Res J (Isfahan). 2014 Mar. 11(2):276-80. [Medline]. [Full Text].

Ponti G, Tomasi A, Manfredini M, Pellacani G. Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies. Gene. 2016 May 10. 582 (1):23-32. [Medline].

Pena AH, Chaudhry A, Seidman RJ, Peyster R, Bangiyev L. Ectopic craniopharyngioma of the fourth ventricle in a patient with Gardner syndrome. Clin Imaging. 2016 Mar-Apr. 40 (2):232-6. [Medline].

Álvarez Salgado JA, González-Llanos Fernández de Mesa F, Villaseñor Ledezma JJ, Cañizares Méndez ML, Paredes Sansinenea I, Rodríguez de Lope-Llorca A, et al. [Ectopic craniopharyngioma and Gardner’s syndrome: Case report and literature review]. Neurocirugia (Astur). 2017 Mar – Apr. 28 (2):97-101. [Medline].

Crippa S, Saletti P, Barizzi J, Mazzucchelli L. The clinical management in familial adenomatous polyposis deserves continuous monitoring for thyroid carcinoma. BMJ Case Rep. 2012 Nov 15. 2012:[Medline].

Cazorla A, Viennet G, Uro-Coste E, Valmary-Degano S. Mucoepidermoid carcinoma: A yet unreported cancer associated with familial adenomatous polyposis. J Craniomaxillofac Surg. 2014 Apr. 42(3):262-4. [Medline].

Kaplan I, Nicolaou Z, Hatuel D, Calderon S. Solitary central osteoma of the jaws: a diagnostic dilemma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Sep. 106(3):e22-9. [Medline].

Pujol RM, Casanova JM, Egido R, Pujol J, de Moragas JM. Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome?. Pediatr Dermatol. 1995 Dec. 12(4):331-5. [Medline].

Wachter-Giner T, Bieber I, Warmuth-Metz M, Brocker EB, Hamm H. Multiple pilomatricomas and gliomatosis cerebri–a new association?. Pediatr Dermatol. 2009 Jan-Feb. 26(1):75-8. [Medline].

Van Epps KJ, Kuszyk BS, Hofmann LV, Fishman EK. Epidermoid inclusion cysts seen on CT of a patient with Gardner’s syndrome. AJR Am J Roentgenol. 1999 Sep. 173(3):858-9. [Medline].

Lanckohr C, Debiec-Rychter M, Müller O, Homann HH, Lehnhardt M, Herter P, et al. [Gardner fibroma: case report and discussion of a new soft tissue tumor entity]. Pathologe. 2010 Mar. 31(2):97-105. [Medline].

Coffin CM, Hornick JL, Zhou H, Fletcher CD. Gardner fibroma: a clinicopathologic and immunohistochemical analysis of 45 patients with 57 fibromas. Am J Surg Pathol. 2007 Mar. 31(3):410-6. [Medline].

Marshall KA, Kuhlmann TP, Horowitz JH, Silloway KA, Edlich RF. Excision of multiple epidermal facial cysts in Gardner’s syndrome. Am J Surg. 1985 Nov. 150(5):615-6. [Medline].

de Camargo VP, Keohan ML, D’Adamo DR, Antonescu CR, Brennan MF, Singer S, et al. Clinical outcomes of systemic therapy for patients with deep fibromatosis (desmoid tumor). Cancer. 2010 May 1. 116(9):2258-65. [Medline].

Perniciaro C. Gardner’s syndrome. Dermatol Clin. 1995 Jan. 13(1):51-6. [Medline].

Artiles Armas M, Marchena Gómez J, Kanouzi Masuh G, Ramírez Felipe JA. Total gastroduodenectomy with pancreatic preservation for the treatment of Gardner’s syndrome with gastroduodenal polyposis and malignant transformation. Cir Esp. 2015 Jun 3. [Medline].

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Warren R Heymann, MD Head, Division of Dermatology, Professor, Department of Internal Medicine, Rutgers New Jersey Medical School

Warren R Heymann, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD.

Sungnack Lee, MD Vice President of Medical Affairs, Professor, Department of Dermatology, Ajou University School of Medicine, Korea

Sungnack Lee, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Karen Allen, MD, and Raul Del Rosario, MD, to the development and writing of this article.

Dermatologic Manifestations of Gardner Syndrome

Research & References of Dermatologic Manifestations of Gardner Syndrome|A&C Accounting And Tax Services

4 thoughts on “Dermatologic Manifestations of Gardner Syndrome

  1. Pingback: cialis cost

Leave a Reply