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

Abstract

Cronkhite–Canada syndrome is a rare gastro-enterocolopathy 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.