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11 Cards in this Set

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Clinical Gardner Syndrome
Inheritance
Autosomal dominant; adenomatous polyposis coli (APC) gene on 5q21 22
Prenatal
DNA analysis
Incidence
Approximately 1:14,000; M=F
Age at Presentation
infancy to early childhood (bone, skin lesions); second to fourth decade (gastrointestinal lesions)
Pathogenesis
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
Clinical
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
DDx
Epidermoid cysts
Familial polyposis coli
Turcot syndrome
Lab
Colonoscopy/biopsy of polyp

Encloscopy

Radiologic evaluation of upper and lower gastrointestinal tract

Skull films/skeletal survey

DNA analysis
Management
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
Prognosis
If total colectomy performed early, prior to metastases, then normal life span