Cronkhite-Canada syndrome: A rare case report and literature review

Abstract

Cronkhite-Canada Syndrome (CCS) is a rare, non-hereditary disease characterized by gastrointestinal polyposis associated with diarrhea and epidermal manifestations, such as hyperpigmentation, alopecia, and onychodystrophy. The pathogenesis of CCS is still not well understood but it probably involved autoimmune mechanism. Herein, we here report a case of steroid-responsive CCS in a male patient whose polyps presented with IgG-4 positive plasma cells. Keywords:Cronkhite-Canada syndrome, Hyperpigmentation, Autoimmune mechanism.Accepted on June 25, 2018 Case Report A 66 y old male farmer with no medical history of any systemic diseases had a 2 y history of non-bloody watery diarrhea associated with weight loss (more than 10 kg within 6 months). He defecated 6 to 8 times daily. He received upper and lower endoscopic examination, abdominal computer tomography, and small bowel barium series in the other hospitals, but there was no definite diagnosis. Endoscopic examinations revealed polyposis in both the stomach and colon. Pathology of the polyps showed inflammatory change without malignant change. Clinical symptoms were not alleviated after long-term proton pump inhibitor and mesalazine therapy. He had no family history of polyposis, malignancy of gastrointestinal tract, and he did not have fever and abdominal pain.His vital signs were normal on examination. General skin hyperpigmentation and dystrophic nails were found (Figure 1), but no oral pigmentation. Laboratory results revealed low level of serum albumin (2.7 g/dL, range: 3.8-5.3 g/dL) and cholesterol (100 mg/dL, range: 122-200 mg/dL). The erythrocyte sedimentation rate was elevated (42 mm/h, range: <15 mm/h), and the C reaction protein slightly increased (0.847 mg/dL, range: <0.3 mg/dL). Serum IgG was within normal range, and anti-nuclear antibody was negative. Gastroesophageal endoscopy found diffuse mucosal erythematous gastric mucosa with fold thickening and numerous semi-pedunculaed and sessile polyps with variable size at the cardia, body, antrum, and duodenal bulb with the exception of esophagus. Ileo-colonoscopic examination showed multiple erythematous sessile and semi-pedunculated polyps with variable size from ileocecal valve, cecum, to the left side colon (Figures 2A and 2B). Multiple EMR and polypectomy from the gastric and colon polyps showed retention polyps with cystically dilated glands filled with mucus in an edematous and inflamed lamina propria mainly composed of plasma cells, neutrophils, and eosinophils. IgG4-positive plasma cells were seen with uneven distribution (Figure 3). Focally, the number of IgG4-positive plasma cells was up to 30 in one high power field. The IgG4 to IgG-positive cell number ratio was around 40%. Helicobacter pylori was negative. Combining the polyposis, ectodermal manifestations, and clinical symptoms, he was diagnosed with Crokhite-Canada syndrome. The patient was treated with daily oral prednisolone 30 mg per day and then tapered over 3 months. The frequency of diarrhea was reduced and he gradually ga...