Dermatologic Manifestations of Gardner Syndrome Clinical Presentation

Updated: Jun 02, 2017
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Presentation

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. [7] Previously undiagnosed Gardner syndrome may be detected when the patient is evaluated for multiple impacted and unerupted teeth.

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Physical Examination

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 (may be visceral, including intracranial [8] )
  • 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%, whereas it is rare in the general population. [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. [10] 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 in this syndrome include multiple impacted or unerupted teeth, supernumerary teeth, hypodontia, compound odontomes, and dentigerous cyst. [11] These dental findings may become evident several years before the intestinal ones. [12]

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) [13] ; craniopharyngioma are usually suprasellar, but have been described in an atypical location in Gardner syndrome [14]
  • Thyroid carcinoma (especially in female patients): This papillary thyroid carcinoma is a distinct type of follicular cell neoplasm histologically characterized by cribriform-morular features. [15] Its incidence may have been underestimated.
  • Osteosarcoma
  • Chondrosarcoma
  • Hepatoblastoma
  • Liposarcoma
  • Mucoepidermoid carcinoma [16]
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Causes

The cause of Gardner syndrome is genetic, with autosomal dominant inheritance.

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Complications

In Gardner syndrome, 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.

Desmoid tumors are a significant cause of the morbidity and mortality in those with Gardner syndrome; surgical procedures to excise them are complex. [9]

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