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What is dermatitis herpetiformis?
Pruritic vesiculopapular rash on the extensor surfaces associated with Celiac Sprue
Celiac sprue cause:
Infection with Tropheryma whippelii
Celiac sprue diagnosis:
- Small bowel biopsy - villous atrophy & crypt hyperplasia
- Positive periodic acid-Schiff (PAS) stain for Tropheryma whippelii
Celiac sprue complications:
Increased risk of small bowel malignancies, especially adenocarcinoma and lymphoma
[Strict adherence to gluten free diet may decrease incidence of malignancy (Kasper et al., 2005, pp. 1673-1675)]
Ulcerative colitis biopsy findings:
- Granular, friable mucosal surface
- Loss of normal vascular pattern
- Prominent neutrophils in the epithelium
- Cryptitis with focal crypt abscess
Ulcerative colitis treatment:
- Medical Management
- Moderate - Severe: Prednisone 40mg PO daily with slow taper
Major liver complication associated with Ulcerative Colitis:
Primary Sclerosing Cholangitis (PSC)
Occurs in up to 3%
Malignancy associated with Primary Sclerosing Cholangitis:
- Colon cancer
What is Hereditary Nonpolyposis Colorectal Cancer Syndrome (HNPCC) caused by?
Germline mutations in DNA mismatch repair (MMR) genes
Hereditary Nonpolyposis Colorectal Cancer Syndrome diagnostic criteria:
Colorectal cancer involving at least 2 generations & at least one diagnosed before age 50
What is Peutz-Jeghers Syndrome?
Hamartomatous polyps of the gut as well as mucocutaneous pigmentation changes
What is Familial Adenomatous Polyposis (FAP) Syndrome?
Mutation of the APC gene resulting in dense colonic polyposis, mandibular osteomas, and universal colon cancer at a young age
What is Turcot Syndrome?
A variant of FAP in which patients can also develop medulloblastoma, glioblastoma multiform, and hypertrophy of retinal pigmented epithelium.
What is Cronkhite-Canada Syndrome?
GI polyposis, alopecia, cutaneous hyperpigmentation, malnutrition, and dystrophic fingernails.
Progressive dysphagia to solid foods without weight loss:
Peptic stricture (associated with long-standing untreated GERD with esophagitis)
Treatment = esophageal dilation & maximal acid suppression (PPI>H2 antag.)
- Pancreatic cancer
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