Cronkhite-Canada syndrome: An elusive gastrointestinal disorder with multisystem involvement-pathogenesis, diagnosis, and therapeutic strategies.

Abstract

Cronkhite-Canada syndrome (CCS) is a rare, non-hereditary gastrointestinal (GI) disorder characterized by diffuse polyposis in the GI tract, ectodermal abnormalities, and nutritional deficiencies. It is a multisystem disorder with a multifactorial origin, particularly autoimmune, with only about 500 cases reported from around the world. This narrative review aims to consolidate current knowledge on CCS, focusing on its epidemiology, clinical features, pathogenesis, diagnostic techniques, and treatment strategies. Clinically, patients with CCS present with chronic diarrhea, abdominal pain, protein-losing enteropathy, alopecia, onychodystrophy, and hyperpigmentation. These symptoms often overlap with other prevalent GI conditions like ulcerative colitis, leading to misdiagnosis of CCS in earlier stages of the disease. Diagnosis of CCS requires a combination of laboratory analyses facilitated with endoscopic visualization of characteristic polyps, histopathological evaluation, and exclusion of other polyposis syndromes. Treatment remains non-standardized, with corticosteroids being the mainstay of management. Other therapeutic regimens include immunosuppressants, biologic agents, non-steroidal anti-inflammatory drugs, and proton pump inhibitors, which are often used as adjunctive therapy with steroids and paired with nutritional supplementation. On the other hand, malignant polyps need to be surgically resected. The prognosis of CCS is improving owing to improved treatment strategies and better patient outcomes. Further research is crucial to enhance our understanding of the pathologic mechanisms of CCS, ultimately aiming to improve early detection and reduce long-term morbidity and mortality.