Introduction
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 findings2 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
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.
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.
Clinical
History
- Many skin findings of Gardner syndrome are evident on full body examination; however, the patient's history of the age at onset and whether lesions are present in family members is important.
- Cysts in Gardner syndrome patients are usually asymptomatic, but they may be pruritic and/or inflamed.
- More than half the patients with Gardner syndrome have dental anomalies.5 Previously undiagnosed Gardner syndrome may be detected when the patient is evaluated for multiple impacted and unerupted teeth.
Physical
A full body skin examination for skin tumors and epidermal inclusion cysts is necessary in Gardner syndrome.
- Several factors differentiate cutaneous cysts associated with Gardner syndrome from ordinary cysts.
- Epidermoid cysts of Gardner syndrome occur at an earlier age (around puberty) than ordinary cysts and in less common locations, such as the face, the scalp, and the extremities.
- Gardner syndrome cysts tend to be multiple and are present in the multiple form in 50-65% of patients.
- Similar to ordinary epidermal inclusion cysts, cysts in Gardner syndrome are usually asymptomatic; however, they may be pruritic and/or inflamed, and they may rupture.
- Other skin signs in Gardner syndrome include the following:
- Fibromas
- Lipomas
- Leiomyomas
- Neurofibromas
- Pigmented skin lesions
- Noncutaneous features of Gardner syndrome include the following:
- Desmoid tumors occur as swelling in the anterior abdominal wall and are often preceded by surgical trauma. The incidence of desmoid tumors in FAP is 8.9%.
- Osteomas are required to make the diagnosis of Gardner syndrome. The mandible is the most common location. They may be widespread in the jaw.6 However, osteomas may occur in the skull and the long bones. Osteomas precede clinical and radiologic evidence of colonic polyposis; therefore, they may be sensitive markers for the disease.
- Colonic adenomatous polyps have a 100% risk of transformation to colonic adenocarcinoma.
- Multifocal pigmented lesions of the fundus are seen in 80% of patients and may present shortly after birth. These lesions can be the first marker of disease.
- Dental abnormalities (eg, unerupted teeth, supernumerary teeth) may occur.
- Other associated neoplasms in Gardner syndrome include the following:
- Periampullary carcinoma (ampulla of Vater; reported in 12% of patients with FAP, usually after colectomy)
- CNS tumors, such as medulloblastoma, glioblastoma, and craniopharyngioma (found in FAP subgroup in Turcot syndrome)
- Thyroid carcinoma (especially in female patients)
- Osteosarcoma
- Chondrosarcoma
- Hepatoblastoma
- Liposarcoma
Causes
The cause of Gardner syndrome is genetic, with autosomal dominant inheritance.
More on Gardner Syndrome |
 Overview: Gardner Syndrome |
| Differential Diagnoses & Workup: Gardner Syndrome |
| Treatment & Medication: Gardner Syndrome |
| Follow-up: Gardner Syndrome |
| References |
| Next Page » |
References
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Elkharwily A, Gottlieb K. The pancreas in familial adenomatous polyposis. JOP. Jan 8 2008;9(1):9-18. [Medline].
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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].
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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].
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].
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].
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].
Perniciaro C. Gardner's syndrome. Dermatol Clin. Jan 1995;13(1):51-6. [Medline].
Cotran RS, Kumar V, Collins T. Pathologic Basis of Disease. Philadelphia, Pa: WB Saunders; 1999:831.
Luk GD. Diagnosis and therapy of hereditary polyposis syndromes. Gastroenterologist. Jun 1995;3(2):153-67. [Medline].
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].
Further Reading
Keywords
Gardner syndrome, Gardner's syndrome, Gardners syndrome, familial adenomatous polyposis, FAP, gastrointestinal polyps, GI polyps
