Cronkhite Canada Syndrome: Significant Response to Infliximab and a Possible Clue to Pathogenesis

Boland, Brigid S.; Bagi, Preet; Valasek, Mark A.; Chang, John T.; Bustamante, Ranier; Madlensky, Lisa; Sandborn, William J.; Harismendy, Olivier; Gupta, Samir

doi:10.1038/ajg.2016.92

Cited by 25 publications

(22 citation statements)

References 5 publications

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“…37 The underlying molecular biology mechanism of CCS has been less thoroughly investigated, with only two WES studies that provide possible clue. 6,7 In this study, we performed RNA-Seq analysis on the gastric polyps and identified INHBA, one of the top 15 upregulated genes in the tissue. In addition, the protein-protein interaction network analysis suggested that INHBA was at the center of the interaction network and might play an important role in CCS.…”

Section: Discussionmentioning

confidence: 99%

“…One whole exome sequencing (WES) study identified a rare protein kinase DNA-activated catalytic subunit DNA variant that might be related to CCS pathogenesis. 6 Another WES study identified mutations in mucin-3A (MUC3A) that may provide insight into CCS pathogenesis. 7 Therefore, novel techniques are needed to investigate the mechanism for promising therapeutic targets and improve patient prognosis.…”

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confidence: 99%

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Cronkhite–Canada syndrome: An investigation in clinical features and pathogenesis

Zhu

Zhong

Wang

et al. 2021

J of Digest Diseases

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This study aimed to investigate the clinical features and potential pathogenesis of a rare nonhereditary polyposis syndrome, Cronkhite-Canada syndrome (CCS).Methods: Medical records of eight patients with CCS who were admitted to our hospital from January 2005 to November 2019 were reviewed. Transcriptome profiling was performed in one patient to investigate its difference between gastric polyp tissue and normal mucosa. Differentially expressed genes (DEGs) were determined for functional analysis. The expression of inhibin beta A (INHBA) was further assessed by using immunohistochemistry.Results: All patients presented with gastrointestinal polyposis, accompanied by diarrhea, skin hyperpigmentation, hair loss and nail dystrophy. Hyperplastic polyps were observed in seven patients, tubular adenoma in two, inflammatory polyps in one and hamartomatous polyps in one, respectively. All patients underwent comprehensive treatment and five achieved clinical remission. A total of 2107 DEGs, including 1265 upregulated and 842 downregulated, were found in the gastric polyp. Gene ontology analysis showed that upregulated genes were significantly enriched in the positive regulation of cell proliferation, epithelium development and angiogenesis. A proteinprotein interaction analysis suggested that INHBA was at the center of the interaction network and might play an important role in CCS. Immunohistochemistry confirmed that INHBA expression was upregulated in CCS gastric polyps.Conclusions: CCS is a rare disease and its diagnosis mainly depends on typical clinical manifestations, endoscopic findings and histological features. INHBA upregulation may contribute to its pathogenesis.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Cronkhite–Canada syndrome: An investigation in clinical features and pathogenesis

Zhu

Zhong

Wang

et al. 2021

J of Digest Diseases

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“…The problem with hormone therapy is recurrence during dosage reduction, which occurs in nearly 40% of patients. [ 3 , 10 ] Azathioprine, cyclosporin A, and anti-TNF agents can be used in relapsed patients, [ 11 – 13 ] but these are mostly single cases or reported in small samples, and there is a lack of control studies on large samples.…”

Section: Discussionmentioning

confidence: 99%

Cronkhite—Canada syndrome associated with perianal condyloma acuminatum with malignant transformation

Wang¹,

Cheng²,

Xue³

et al. 2021

Medicine

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Rationale: Cronkhite-Canada syndrome (CCS) is a rare non-familial polyposis syndrome characterized by multiple gastrointestinal polyps with the ectodermal triad. To date, many complications of CCS have been reported in the literature, but perianal condyloma acuminatum with malignant transformation has not been included. Patient concerns: This report presents the case of a 52-year-old Chinese man who presented with diarrhea, loss of appetite, and weight loss. He developed skin pigmentation and atrophy of the fingernails and toenails. Upper gastrointestinal endoscopy, colonoscopy, capsule endoscopy, and enteroscopy revealed diffuse polyps along the entire digestive tract. Histopathological examination revealed polyps of different pathological types dominated by hamartoma. Physical examination revealed a crissum cauliflower-like neoplasm (2.5 × 2.0 cm). After perianal tumor resection, pathology suggested that this was a perianal condylomatous lesion with malignant transformation, as well as well-differentiated squamous cell carcinoma. Diagnoses: These clinical features and endoscopic findings were consistent with CCS which associated with perianal condyloma acuminatum with malignant transformation. Intervention: Clinical remission was achieved with glucocorticoid, azathioprine, and nutritional support. Outcome: At the 4-year follow-up, the patient had no diarrhea or loss of appetite, had gained 13 kg in weight, and the perianal tumor had not recurred. Lessons: No previous report has described CCS in a patient with perianal condyloma acuminatum with malignant transformation. As both conditions are related to immune disorders, their occurrence may be correlated.

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“…Combination therapy with azathioprine and cyclosporine has been used in steroid-resistant cases [13]. There are three recent case reports using anti-tumor necrosis factor antibody therapy with success [14, 15]. Overall, reports of steroid-sparing therapies in CCS are sparse.…”

Section: Discussionmentioning

confidence: 99%

A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy

Firth

Harris

Smith

et al. 2018

Case Rep Nephrol Dial

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Cronkhite-Canada syndrome (CCS) is a very rare disorder with less than 500 reported cases. It is characterized by extensive gastrointestinal polyposis and ectodermal anomalies including alopecia, cutaneous hyperpigmentation, and onychodystrophy. Only 3 cases of associated kidney disease (membranous nephropathy [MN]) have been reported. A 71-year-old male with CCS was referred for further evaluation of proteinuria. The patient initially presented with abdominal discomfort, weight loss, dysgeusia, skin hyperpigmentation, alopecia, and dystrophic nails. Endoscopic evaluation showed widespread gastrointestinal nodular inflammation and polyps. Histopathology was consistent with CCS. Initial treatment was with prednisone, azathioprine, and ranitidine. He had moderate clinical improvement but developed nephrotic-range proteinuria. Renal biopsy showed MN, and cyclosporine was started. The patient had significant improvement in his CCS manifestations; however, his proteinuria and renal function worsened. Rituximab was added to his regimen of cyclosporine and azathioprine, which resulted in remission of his MN, marked improvement in his polyposis, and near resolution of his cutaneous symptoms. This case represents a unique presentation of CCS associated with MN treated with rituximab. The excellent clinical response observed for both CCS and MN advocates consideration of this treatment, especially for refractory disease.

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Cronkhite Canada Syndrome: Significant Response to Infliximab and a Possible Clue to Pathogenesis

Cited by 25 publications

References 5 publications

Cronkhite–Canada syndrome: An investigation in clinical features and pathogenesis

Cronkhite–Canada syndrome: An investigation in clinical features and pathogenesis

Cronkhite—Canada syndrome associated with perianal condyloma acuminatum with malignant transformation

A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy

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