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Gardner Syndrome: Differential Diagnoses & Workup

Author: Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Contributor Information and Disclosures

Updated: Jul 17, 2009

Differential Diagnoses

Eruptive Vellus Hair Cysts

Other Problems to Be Considered

Multiple osteomas of the jaws are a hallmark of Gardner syndrome (familial adenomatous polyposis [FAP]); nonsyndromic cases are typically solitary.7

Epidermoid cysts of Gardner syndrome may exhibit pilomatricomalike changes.8 Pilomatricomas themselves may be associated with genetic diseases, such as Curschmann-Steinert myotonic dystrophy and Rubinstein-Taybi syndrome.9

Workup

Laboratory Studies

  • Thyroid screening by physical examination and ultrasonography is recommended in Gardner syndrome.
  • Chromosome studies from peripheral blood lymphocytes and allele-specific expression assay can be performed.
  • Screen all first-degree relatives of patients with Gardner syndrome or FAP.

Imaging Studies

Procedures

  • Perform an ophthalmologic examination at an early age to detect pigmented lesions of the fundus.
  • Fecal occult blood, sigmoidoscopy/colonoscopy, and upper GI endoscopy are required at least every 1-2 years until the patient reaches age 50 years.

Histologic Findings

Pathologic findings of the epidermoid cysts of Gardner syndrome are similar to findings in non–Gardner syndrome cysts; however, many have pilomatricomalike changes.8 In 1 study, 63% of cysts examined from 7 patients with Gardner syndrome demonstrated 1 or more matricoma features, such as columns of shadow cells, calcification, and basophilic matrixlike cells in the cyst lining.

More on Gardner Syndrome

Overview: Gardner Syndrome
Differential Diagnoses & Workup: Gardner Syndrome
Treatment & Medication: Gardner Syndrome
Follow-up: Gardner Syndrome
References
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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. 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].

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

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

  15. Luk GD. Diagnosis and therapy of hereditary polyposis syndromes. Gastroenterologist. Jun 1995;3(2):153-67. [Medline].

  16. Narisawa Y, Kohda H. Cutaneous cysts of Gardner's syndrome are similar to follicular stem cells. J Cutan Pathol. Apr 1995;22(2):115-21. [Medline].

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Further Reading

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Keywords

Gardner syndrome, Gardner's syndrome, Gardners syndrome, familial adenomatous polyposis, FAP, gastrointestinal polyps, GI polyps

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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, UMDNJ-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.

Medical Editor

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.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
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.

Managing Editor

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.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine 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.

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