Medscape is available in 5 Language Editions – Choose your Edition here.


Dermatologic Manifestations of Gardner Syndrome Differential Diagnoses

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
Updated: Jun 08, 2016

Diagnostic Considerations

Multiple osteomas of the jaws are a hallmark of Gardner syndrome (familial adenomatous polyposis [FAP]); nonsyndromic cases are typically solitary.[15]

Epidermoid cysts of Gardner syndrome may exhibit pilomatricomalike changes.[16] Pilomatricomas themselves may be associated with genetic diseases, such as Curschmann-Steinert myotonic dystrophy and Rubinstein-Taybi syndrome.[17]

Differential Diagnoses

Contributor Information and Disclosures

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.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

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.

Chief Editor

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: Nothing to disclose.

Additional Contributors

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.

  1. 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].

  2. 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].

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

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

  5. 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].

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

  7. 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].

  8. 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].

  9. 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].

  10. 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].

  11. 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].

  12. 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].

  13. 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].

  14. 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].

  15. 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].

  16. 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].

  17. 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].

  18. 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].

  19. 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].

  20. 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].

  21. 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].

  22. 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].

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

  24. 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].

Adenoma-to-carcinoma sequence on a cellular level.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.