| Patient Education |
|
Click here for patient education.
|
|
You are in: eMedicine Specialties >
Dermatology > INTERNAL MEDICINE
Gardner Syndrome
Article Last Updated: Aug 9, 2005
AUTHOR AND EDITOR INFORMATION
Section 1 of 9  
Author: Karen Allen, MD, Consulting Dermatologist
Karen Allen is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Coauthor(s):
Ronald Barr, MD, Head of Dermatopathology Laboratory, Professor, Departments of Dermatology and Pathology, University of California at Irvine;
Raul DelRosario, MD, Surgical Pathology and Dermatopathology, South Coast Medical
Editors: Sungnack Lee, MD, Vice President of Medical Affairs, Professor, Department of Dermatology, Ajou University School of Medicine, Korea; Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center; Warren R Heymann, MD, Head, Division of Dermatology, Professor, Department of Internal Medicine, University of Medicine and Dentistry of New Jersey; Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University; William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
Author and Editor Disclosure
Synonyms and related keywords:
familial adenomatous polyposis, FAP, gastrointestinal polyps, GI polyps
Background
Gardner syndrome, a variant of familial adenomatous polyposis (FAP), is an autosomal dominant disease characterized by GI polyps, multiple osteomas, and skin and soft tissue tumors. Cutaneous findings include epidermoid cysts, desmoid tumors, and other benign tumors. Polyps have a 100% risk of undergoing malignant transformation; consequently, early identification of the disease is critical.
Pathophysiology
Gardner syndrome is genetically linked to band 5q21, the adenomatous polyposis coli locus. 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 patients (rates vary from 58-100% in studies).
Age
Although colonic polyps begin to form in puberty, the average age at 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.
History
- Many skin findings 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 are usually asymptomatic, but they may be pruritic and/or inflamed.
Physical
A full body skin examination for skin tumors and epidermal inclusion cysts is necessary.
- 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 include the following:
- Fibromas
- Lipomas
- Leiomyomas
- Neurofibromas
- Pigmented skin lesions
- Noncutaneous features 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; 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 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.
Eruptive Vellus Hair Cysts
Lab Studies
- Thyroid screening by physical examination and ultrasonography is recommended.
- 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
- Imaging studies are essential for screening patients and family members who are affected.
- Panoramic radiography of the mandible can demonstrate subtle opacities at an early age.
- Long bone radiographs may demonstrate osteomas or hyperostosis.
- Ultrasonography is performed to screen for thyroid tumors.
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. 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.
Medical Care
Treatment of the cutaneous manifestations of Gardner syndrome depends on the symptomatic or cosmetic nature and the location of the cysts. Treatment is similar to that used for ordinary cysts and involves excision or use of intralesional steroids if the cysts are inflamed.
Surgical Care
- Colectomy is recommended if 30 or more polyps are detected on colonoscopy or if biopsy results reveal dysplasia or malignant degeneration.
- Preserving the rectum results in a 25-59% chance of rectal carcinoma occurring in these patients; therefore, rectal mucosal resection is recommended.
- Generally, cutaneous findings do not require treatment.
- Osteomas may require excision if they are severely deforming or if they interfere with function.
Complications
- Polyps have a 100% risk of undergoing malignant transformation; therefore, surgical transection is indicated.
- Females are at higher risk for thyroid carcinoma than males. Other neoplasms possible with Gardner syndrome include periampullary carcinoma, CNS tumors, osteosarcoma, chondrosarcoma, hepatoblastoma, and liposarcoma.
Patient Education
Medical/Legal Pitfalls
- Failure to diagnose the condition is a pitfall. Polyps have a 100% risk of undergoing malignant transformation; consequently, early identification of the disease is critical.
- 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].
- Cotran RS, Kumar V, Collins T. Pathologic Basis of Disease. Philadelphia, Pa: WB Saunders; 1999:. 831.
- Hood AB, Krush AJ. Clinical and dermatologic aspects of the hereditary intestinal polyposes. Dis Colon Rectum. Aug 1983;26(8):546-8. [Medline].
- Luk GD. Diagnosis and therapy of hereditary polyposis syndromes. Gastroenterologist. Jun 1995;3(2):153-67. [Medline].
- Marshall KA, Kuhlmann TP, Horowitz JH, et al. Excision of multiple epidermal facial cysts in Gardner''s syndrome. Am J Surg. Nov 1985;150(5):615-6. [Medline].
- Narisawa Y, Kohda H. Cutaneous cysts of Gardner''s syndrome are similar to follicular stemcells. J Cutan Pathol. Apr 1995;22(2):115-21. [Medline].
- Perniciaro C. Gardner''s syndrome. Dermatol Clin. Jan 1995;13(1):51-6. [Medline].
- Pujol RM, Casanova JM, Egido R, et al. Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome?. Pediatr Dermatol. Dec 1995;12(4):331-5. [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].
Gardner Syndrome excerpt Article Last Updated: Aug 9, 2005
|
