CCS is characterized by chronic diarrhea that may be watery and intermittently bloody. It is accompanied by a protein-losing enteropathy, significant weight loss, iron deficiency anemia, and vitamin deficiencies. Other gastrointestinal symptoms include nausea, vomiting, and abdominal pain. Taste disturbances including dysgeusia or ageusia may occur. Polyps (hamartomatous and less frequently, inflammatory, hyperplastic, and adenomatous) may occur anywhere in the gastrointestinal tract, except for the esophagus.
Integumentary changes include lentigo-like or more diffuse hyperpigmentation (sometimes with hypopigmentation), nail dystrophy, and rapid-onset alopecia. While acute telogen effluvium has been implicated, recent evidence points to alopecia areata incognita (diffuse variant of alopecia areata) as being causative.
The etiopathogenesis of CCS is unknown. Some cases have occurred in the setting of autoimmune diseases such systemic lupus erythematosus or rheumatoid arthritis, prompting inference of autoimmunity.
Untreated disease has a high mortality rate. Acute complications include gastrointestinal bleeding, intussusception, and sepsis. Chronically, CCS may predispose to osteoporosis. Malignant transformation of polyps in the colon (especially sigmoid and rectum) and stomach has been reported in a minority of cases.
D12.6 – Benign neoplasm of colon, unspecified
76304001 – Cronkhite-Canada syndrome
Differential Diagnosis & Pitfalls
- Peutz-Jeghers syndrome – Intestinal hamartomatous polyps associated with mucocutaneous pigmentation.
- Familial adenomatous polyposis – Inherited as autosomal dominant disorder. Polyps are carcinogenic if left untreated.
- Gardner syndrome – Associated with osteoma in addition to colonic polyposis.
- Turcot syndrome
- Laugier-Hunziker syndrome – Rare, acquired macular hyperpigmentation disorder.
- Juvenile polyposis syndrome
- Bannayan-Riley-Ruvalcaba syndrome