Magnifying the endoscopic appearance of Cronkhite-Canada syndrome

 CommentaryIf one wanted evidence to support the concept that skin lines both the outside and the inside of the body, I would look to a person with Cronkhite-Canada syndrome (CCS) in whom just the epithelium of the skin and GI tract is affected. CCS is a diagnosis, like von Recklinghausen or Proteus syndrome, that should be made upon first glance: alopecia, hyperpigmentation, and onychodystrophy are classic and, along with profound hypoalbuminemia, tell the examiner that he or she is about to find hamartomatous polyps in the stomach, small intestine, or colon, but not in the esophagus. As in the present report, most of the cases are from Japan and with the onset of disease most commonly presenting at about age 50 to 60 years. Evidence does not suggest a genetic or specific infectious basis for the disease, but unique involvement of 2 epithelial tissues suggests a role for derangements in epithelial cell-to-cell signaling or maturation; the observation that sulindac administration has led to regression of CCS polyps may support this mechanism. The therapeutic efficacy of corticosteroids suggests an inflammatory or autoimmune cause of CCS; the latter is supported by the coexistence of autoimmune conditions and the recent description of immunoglobulin G4-producing plasma cells in CCS polyps. Although the polyps in CCS are hamartomas, there are reports of microsatellite instability, overexpression of p53 protein, serrated adenomatous polyps, and gastric and colorectal cancer in the syndrome, raising the possibility of a serrated adenoma-carcinoma sequence underlying some CCS-associated malignancies. The disease may evolve rapidly and have a grave prognosis, although today, about half of affected patients have a remission with long-term survival. Charles Dickens said that “every human creature is constituted to be that profound secret and mystery to every other.” He thought this “a wonderful fact to reflect on,” but I think that as physicians, it would be far more wonderful to reflect on the fact that what once was a mystery is now understood and that these unfortunate individuals with CCS can be restored to health.Lawrence J. Brandt, MDAssociate Editor for Focal Points

PII: S0016-5107(09)02190-7

doi:10.1016/j.gie.2009.07.002

© 2009 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.