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Last updated:
April 10, 2018
Years published: 1986, 1987, 1994, 2003, 2005, 2018
NORD gratefully acknowledges Shreena Dhawan, MD Candidate, American University of Integrative Sciences, and Dr. Jean-Christophe Saurin, Head Gastroenterology Unit, Hepatogastroenterologist and Genetician, Herriot Hospital, Hospices Civils de Lyon, Lyon, France, for assistance in the preparation of this report.
Cronkhite-Canada syndrome (CCS) is an extremely rare disease characterized by various intestinal polyps, loss of taste, hair loss, and nail growth problems. It is difficult to treat because of malabsorption that accompanies the polyps. CCS occurs primarily in the older population (average age 59) and predominantly occurs in males. It is considered to be an acquired, not hereditary, disease.
The symptoms of Cronkhite-Canada syndrome occur because of multiple polyps occurring in the stomach, small intestine, colon and, less frequently, the esophagus. These include chronic or recurring watery diarrhea, cramps, and abdominal discomfort. These people may also have abnormally low levels of protein in the blood (protein-losing enteropathy), causing a feeling of general ill health (cachexia), malnutrition, nausea and vomiting.
The earliest symptoms reported are changes in taste and loss of smell. Patients can even experience a profound loss of appetite, sometimes to the point of malnutrition, weight-loss and/or excess fluid accumulation in the arms and legs (peripheral edema). An imbalance of certain essential minerals (electrolytes) may occur because of chronic diarrhea. Some people with CCS may also have large skin bruises (ecchymotic plaques) and/or impaired lung function. Other symptoms may include loss of hair (alopecia), large areas of dark spots on the skin (hyperpigmentation) and degenerative changes and, eventually, loss of the fingernails (onychodystrophy).
Patients with CCS can also have coexisting autoimmune disorders, where the body develops antibodies against an organ, thereby attacking itself, e.g. hypothyroidism, rheumatoid arthritis, scleroderma, systemic lupus erythematous, etc.
The exact cause of Cronkhite-Canada syndrome is unknown. It seems to occur for no known reason (sporadically) and is not thought to be hereditary.
Cronkhite-Canada syndrome is an extremely rare disorder that affects males predominantly. (The ratio seems to be approximately 3 males to 2 females.) Typically, the age of onset is during the middle years or old age. The average is about 59 years with a range of 31 to 86 years. Worldwide, over 500 cases have been reported in the past 50 years, primarily in Japan but also in the United States and other countries.
The diagnostic criteria for Cronkhite Canada Syndrome is based on symptoms and particular features; however, there is no specific diagnostic test for this syndrome. The mean age of onset is 60, ranging from 31 to 86 years old. There are usually large numbers of polyps in the digestive tract, most often sparing the esophagus. The polyps have hamartomatous features, meaning they contain mucus and are inflamed within an intact surface.
Besides the GI tract, findings in the skin are also diagnostic for this disease. Patients experience alopecia (loss of hair), dark spots on the skin of the arms, legs and face (hyperpigmented macules) and have a loss of finger nails (onychodystrophy).
One test that can be positive with this syndrome is IgG4 plasma cells but a negative test does not rule out the syndrome. The most important aspects for a diagnosis of Cronkhite Canada Syndrome are the aforementioned physical presentations as there is no particular test to provide a definitive diagnosis of the syndrome.
Treatment
Treatment is based on controlling symptoms and providing support. The primary goal of treatment is to correct fluid, electrolyte and protein loss by nutritional supplementation or a nutritionally balanced liquid diet. Corticosteroids (i.e., prednisone) may be given occasionally to help reduce intestinal inflammation. Bacterial overgrowth in the intestines, which can cause malabsorption, may be treated with antibiotics. In rare cases, symptoms have resolved for no apparent reason (spontaneous remission).
Surgical removal of polyps may help to relieve some of the symptoms of Cronkhite-Canada syndrome. However, they may recur or be too numerous to remove individually. If necessary, severely affected portions of the colon may be removed. Case reports have suggested the use of immunosuppressive treatment, including aziathioprin and ciclosporin, if other treatments are not effective.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com
For more information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
TEXTBOOKS
Oberhuber G, Cronkhite-Canada Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:338.
Yamada T, Alpers DH, Owyang C, et al. Eds. Textbook of Gastroenterology. 2nd ed. J. B. Lippincott Company. Philadephia, PA; 1995:1960.
JOURNAL ARTICLES
De Petris G, Chen L, Pasha SF, Ruff KC. Cronkhite-Canada syndrome diagnosis in the absence of gastrointestinal polyps: a case report. Int J Surg Pathol. 2013 Dec. 21 (6):627-31.
Egawa T, Kubota T, Otani Y, et al. Surgically treated Cronkhite-Canada syndrome associated with gastric cancer. Gastric Cancer. 2000;27:156-60.
Fossati M, Lombardi F, Cattaneo C, et al. Cronkhite-Canada syndrome. A case of sustained partial remission. Dig Liver Dis. 2001;33:785-77.
Goto A. Cronkhite-Canada syndrome: epidemiological study of 110 cases reported in Japan. Nippon Geka Hokan. 1995;64:3-14.
Sweetser S, Alexander GL, Boardman LA. A case of Cronkhite-Canada syndrome presenting with adenomatous and inflammatory colon polyps. Nat Rev Gastroenterol Hepatol. 2010 Aug. 7(8):460-4.
Ward EM, Wolfsen HC. Pharmacological management of Cronkhite-Canada syndrome. Expert Opin Pharmacother. 2003;4:385-89.
Ward EM, Wolfsen HC, Ng C. Medical management of Cronkhite-Canada syndrome. South Med J. 2002;95:272-74.
INTERNET
Saurin J-C. Cronkhite-Canada syndrome. Orphanet. Last update: May 2016. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2646&Disease_Disease_Search_diseaseGroup=Cronkhite-Canada-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Cronkhite-Canada-syndrome&title=Cronkhite-Canada-syndrome&search=Disease_Search_Simple.
Accessed April 2, 2018.
Parikh K and Elston DM. Cronkhite-Canada Syndrome. Medscape. Updated: Jan 14, 2016. www.emedicine.com/derm/topic729.htm Accessed March 29, 2018.
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