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11 Cards in this Set
- Front
- Back
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Clinical Gardner Syndrome
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Inheritance
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Autosomal dominant; adenomatous polyposis coli (APC) gene on 5q21 22
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Prenatal
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DNA analysis
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Incidence
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Approximately 1:14,000; M=F
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Age at Presentation
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infancy to early childhood (bone, skin lesions); second to fourth decade (gastrointestinal lesions)
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Pathogenesis
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Mutations in APC, a tumor suppressor gene that regulates B catenin, an adherens junction protein controlling cell growth and early embryonic axis formation, promotes tumor formation; high dietary fat may play a role in patients with the genetic defect
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Clinical
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Skin
Epidermoid cysts increased on head and neck; may have unusual location on toe, scalp, shin Fibromas Musculoskeletal Osteomas maxilla, mandible, other skull bones; small, multiple Gastrointestinal Polyposis with high predisposition to malignant adenocarcinoma; most common 'in colon/rectum Desmoid tumors postabdominal surgery; uteral or intestinal obstruction Eyes Congenital hypertrophy of retinal pigment epithelium (CHRPE) congenital marker for diagnosis Teeth Oclontomas, supernumerary teeth |
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DDx
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Epidermoid cysts
Familial polyposis coli Turcot syndrome |
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Lab
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Colonoscopy/biopsy of polyp
Encloscopy Radiologic evaluation of upper and lower gastrointestinal tract Skull films/skeletal survey DNA analysis |
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Management
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Referral to gastroenterologist semiannual evaluation of gastrointestinal tract, high¬fiber diet
Referral to su rgeon prophy lactic colectomy Referral to ophthalmologist, dentist Referral to dermatologist excision of cysts Examination of family members |
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Prognosis
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If total colectomy performed early, prior to metastases, then normal life span
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