The Challenging Diagnosis of Cronkhite-Canada Syndrome in the Upper Gastrointestinal Tract

Bettington, Mark; Brown, Ian; Kumarasinghe, M. Priyanthi; Boer, Bastiaan de; Bettington, Andrew; Rosty, Christophe

doi:10.1097/pas.0000000000000098

Cited by 37 publications

(27 citation statements)

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“…Although azathioprine used with or without steroid maintenance therapy was reported to be associated with sustained clinical remission [1, 5, 32], we could not confirm this finding. Since immunological dysregulation is one of the important factors hypothesized to be present in CCS [5, 14, 33–36], the long-term use of immunoregulatory drugs or biologics may be useful for active or refractory disease.…”

Section: Discussionmentioning

confidence: 99%

Endoscopic and clinical evaluation of treatment and prognosis of Cronkhite–Canada syndrome: a Japanese nationwide survey

et al. 2015

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BackgroundFirst reported in 1955, Cronkhite–Canada syndrome (CCS), a rare syndrome characterized by ectodermal abnormalities and inflammatory changes of the gastrointestinal tract mucosa, has been associated with a poor prognosis and life-threatening malignant complications. In a large population survey, we endeavored to characterize the course and treatment outcome of CCS through clinical and endoscopic assessment, and to explore its optimal treatment and surveillance strategy.MethodsA retrospective analysis of 210 patients with CCS was conducted via a questionnaire-based nationwide survey of 983 teaching hospitals located throughout Japan. We assessed clinical features, endoscopic findings, treatments used, and short- and long-term outcomes.ResultsThe average age at diagnosis was 63.5 years. In all cases, upper or lower gastrointestinal tract polyposis was confirmed, accompanied by characteristic ectodermal abnormalities. Of the treatments used, oral corticosteroids (30–49 mg/day) were the most effective treatment for active disease, with adjunctive nutritional support considered beneficial. With corticosteroid treatment, abdominal symptoms were relieved within a few months, whereas polyp regression often required more than 6 months. Maintenance of endoscopic remission with or without steroids for 3 years significantly lowered the development of CCS-related cancer, compared with relapsers or nonresponders, underscoring the importance of sustained endoscopic remission for cancer prevention.ConclusionsThe prognosis of CCS has greatly improved through the use of improved medical treatment. Although CCS continues to be relentlessly progressive, carrying a high cancer risk, a sufficient dose and duration of corticosteroid therapy accompanied by nutritional support and periodic endoscopic surveillance appears to improve its natural history.Electronic supplementary materialThe online version of this article (doi:10.1007/s00535-015-1107-7) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Endoscopic and clinical evaluation of treatment and prognosis of Cronkhite–Canada syndrome: a Japanese nationwide survey

et al. 2015

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“…Some polyps may have a decidedly paucicellular stroma and submucosal epithelial invagination has been documented 44 52. In the upper GI tract, villous atrophy, crypt shrinkage or withering and epithelial apoptosis are sometimes conspicuous 23. Of cardinal diagnostic importance, and in contradistinction to other GI polyposis syndromes, is the finding of lamina propria oedema and (usually mild) inflammatory cell infiltration, as well as gland/crypt dilation and distortion in the intervening endoscopically/macroscopically spared non-polypoid mucosa (figure 1E,F).…”

Section: Pathologymentioning

confidence: 99%

“…This most often occurs in the upper GI tract, where a diffusely thickened or atrophic rather than polypoid mucosa is seen 46. An infiltrative neoplastic process (especially lymphoma or diffusely invasive/linitis plastica-like carcinoma) or infectious pathology may be suspected on clinical grounds 23. Careful evaluation of endoscopic biopsy material, however, will readily exclude neoplasia and confirm the characteristic architectural distortion and lamina propria changes of CCS.…”

Section: Differential Diagnosismentioning

confidence: 99%

Cronkhite–Canada syndrome six decades on: the many faces of an enigmatic disease

Slavík¹,

Montgomery

2014

J Clin Pathol

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Cronkhite–Canada syndrome is a rare gastro-entero-colopathy of uncertain aetiology first described almost 60 years ago. It is characterised by diffuse gastrointestinal polyposis sparing only the oesophagus, ectodermal abnormalities and an unpredictable but often fatal clinical course. The disease may demonstrate extremely diverse clinical and endoscopic features, which often leads to a delay in diagnosis. A high index of suspicion and recognition of the characteristic histological findings frequently facilitate a correct diagnosis, but the distribution of the gastrointestinal pathology and its microscopic features may be atypical. The pathologist thus requires a thorough knowledge of both the typical and many atypical faces of this disease, for which various documented therapies often still prove ineffective. Close correlation with clinical findings, including any pertinent ectodermal abnormalities, and careful examination of biopsies derived from polypoid and endoscopically spared mucosa will ensure a timely and correct diagnosis in patients with this enigmatic syndrome.

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“…To consider gastric infection, H. pylori may also coexist (54%) [7]. There were several reports suggesting the strong associated of CCS with IgG4-related disorders, but in the case series, the rate of IgG4-positive plasma cells was low and the immune dysregulation of crypt cells differentiation was proposed [7,8].…”

Section: Figure 3 A: Gastric Polyp With Cystic Hyperplastic Glands Amentioning

confidence: 81%

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

Lee¹,

Yang²,

Wu³

et al. 2018

biomedicalresearch

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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...

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The Challenging Diagnosis of Cronkhite-Canada Syndrome in the Upper Gastrointestinal Tract

Cited by 37 publications

References 27 publications

Endoscopic and clinical evaluation of treatment and prognosis of Cronkhite–Canada syndrome: a Japanese nationwide survey

Endoscopic and clinical evaluation of treatment and prognosis of Cronkhite–Canada syndrome: a Japanese nationwide survey

Cronkhite–Canada syndrome six decades on: the many faces of an enigmatic disease

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

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