クロンカイト・カナダ症候群

Cronkhite-Canada syndrome (CCS) is a rare, nonhereditary gastrointestinal polyposis syndrome. The rarity of CCS has led to a limited understanding of its optimal management and prognosis. We aimed to share our experience with 7 CCS patients, investigating the clinical characteristics, diagnostic approaches, treatment strategies, and prognoses we have established. We conducted a retrospective analysis of adult patients diagnosed with CCS between January 2016 and December 2024. The primary outcome was to evaluate the diagnostic findings and treatment course. Secondary outcomes included the assessment of complications and prognoses during the follow-up period. A weighted scoring system was developed to evaluate treatment response. Among the 11 initially identified patients, 7 patients were included. All patients presented with alopecia, and the majority exhibited skin pigmentation (85.7%) and nail dystrophy (57.1%). Gastric and colonic polyposis were confirmed in all cases. Treatment strategies included corticosteroids, azathioprine, mesalazine, and methotrexate (MTX). Complete remission (CR) of gastric and colonic polyps was achieved in 1 patient (14.3%) after 16.2 months of treatment. One patient (14.3%) was diagnosed with a malignant neoplasm of the brain during follow-up. No mortalities were reported during the study period. Our findings suggest that while corticosteroids remain the primary treatment, individualized approaches incorporating immunomodulators may improve outcomes. Long-term surveillance is crucial due to the potential for malignant transformation. Further research is needed to optimize management strategies and understand the genetic basis of CCS.

Cronkhite-Canada syndrome is a rare, non-hereditary polyposis syndrome characterized by non-specific gastrointestinal symptoms accompanied by alopecia, cutaneous hyperpigmentation, and nail dystrophy. Characteristic endoscopic findings are diffuse sessile polypoid lesions with edematous mucosa. We report a case of a 44-year-old woman in whom intestinal ultrasound and CT revealed diffuse mucosal thickening and an ileocecal intussusception-findings that may not be pathognomonic but are highly unusual in adults. These imaging features served as critical red flags that directed the clinical suspicion toward Cronkhite-Canada syndrome and prompted timely endoscopic confirmation.

This article reports a case of a patient with Cronkhite-Canada syndrome combined with sigmoid colon cancer and early esophageal cancer. In this case, CCS was diagnosed simultaneously with the discovery of sigmoid colon cancer and early esophageal cancer. After radical resection of sigmoid colon cancer, the patient received hormone therapy for 12 months. The symptoms such as diarrhea, hair loss, and malnutrition were relieved, and the gastric-duodenal and colonic polyp-like lesions were reduced. The early esophageal cancer was followed up for 3 years, but no active treatment was given for the early esophageal cancer. It is rare for both colon cancer and early esophageal cancer to occur simultaneously on the basis of CCS. To improve the understanding of the diagnosis and treatment of this disease and postoperative management, the case is reported as follows.