Dermatologic Manifestations of Gardner Syndrome 

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jun 23, 2010
 

Background

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; consequently, early identification of Gardner syndrome is critical.[3]

Next

Pathophysiology

Gardner syndrome is genetically linked to band 5q21, the adenomatous polyposis coli locus.[4] 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.

Previous
Next

Epidemiology

Frequency

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%).

Mortality/Morbidity

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).

Age

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.

Previous
Proceed to Clinical Presentation
 
 
Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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 Dermatological Association

Disclosure: Nothing to disclose.

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

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

Disclosure: Nothing to disclose.

Warren R Heymann, MD  Head, Division of Dermatology, Professor, Department of Internal Medicine, University of Medicine and Dentistry of New Jersey

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

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

  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. Apr 7 2008;14(13):2121-3. [Medline].

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

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

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

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

  6. 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. Mar 2009;107(3):e68-72. [Medline].

  7. 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. Sep 2008;106(3):e22-9. [Medline].

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

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

  10. 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. Sep 1999;173(3):858-9. [Medline].

  11. Desch CE, Benson AB 3rd, Somerfield MR, et al. Colorectal cancer surveillance: 2005 update of an American Society of Clinical Oncology practice guideline. J Clin Oncol. Nov 20 2005;23(33):8512-9. [Medline].

  12. 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. Mar 2010;31(2):97-105. [Medline].

  13. 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. Mar 2007;31(3):410-6. [Medline].

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

  15. 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. May 1 2010;116(9):2258-65. [Medline].

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

  17. Cotran RS, Kumar V, Collins T. Pathologic Basis of Disease. Philadelphia, Pa: WB Saunders; 1999:831.

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.