Cronkhite-Canada Syndrome

Cronkhite-Canada Syndrome (CCS)Cronkhite-Canada Syndrome (CCS) is an extremely rare noninherited disease characterized by the generalized gastrointestinal polyps, cutaneous pigmentation, alopecia, and onychodystrophy.

Description

CCS is a very rare sporadic condition that involves gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation weight loss, abdominal pain, and watery diarrhea. Only 450 cases of the disorder were reported in the literature since 1955 when the syndrome was described for the first time.

Causes

There is no definite cause of the syndrome known. The possible cause of the syndrome may have an autoimmune origin, but the infectious cause was also considered.


Risk factors

There is a relation between CCS and hypothyroidism and many other autoimmune diseases (membranous glomerulonephritis, systemic lupus erythematosus, rheumatoid arthritis, and scleroderma). Mental and physical stress is considered to the most important risk factor for this disease.

Symptoms of Cronkhite-Canada Syndrome (CCS)

The first symptoms of the disease occur when a person is about 31-85 years. The manifest include watery diarrhea with stool volumes of 4-6 L (sometimes accompanied by steatorrhea and melena), dysgeusia (distorted sense of taste), dry mouth, partial or total lack of appetite, weight loss (usually up to 20 kg), constant or episodic abdominal pain, and weakness. These signs occur due to the polyposis of the stomach, small intestine, and colon. This also leads to the lactose intolerance and malabsorption (disability to absorb nutrients). Other symptoms include severe vomiting and nausea (more common for females). Some of the patients develop difficulties during swallowing.
Diarrhea causes loss of protein and electrolytes and respectively cachexia (exhaustion).

Soon occurs alopecia, skin hyperpigmentation, vitiligo, and nail discoloration and ragged fingernails.
Neurologic symptoms include numbness and tingling in the extremities, dysphagia, spasms and convulsions.
Children present a symmetric rash located on the lower back, buttocks, lips and over the genitalia area n the form of desquamation. Infantile variant of CCS is associated with macrocephaly.
Common complications are gastrointestinal bleeding with anaemia, intussusception, and rectal prolapse, gastric and colonal cancer (15% of cases) may occur. Some uncommon complications have also been reported such as:
– recurrent severe acute pancreatitis,
– myelodysplastic syndrome,
– giant cell bone tumour,
– multiple rib fractures,
– cecal intussusception,
– schizophrenia,
– portal thrombosis,
– membranous glomerulonephritis.

[See also: Neuromyelitis optica (Devic’s syndrome)]

Diagnosis

To establish the diagnosis of Cronkhite-Canada Syndrome (CCS) doctor may conduct several tests: blood and urine testing, fluoroscopy of the gastrointestinal tract, endoscopic procedures (colonoscopy, duodenoscopy, gastroscopy), CT scan of the abdomen and histopathological studies on polypoid lesions (benign juvenile-like or hamartomatous polyps).

Treatment

There is no specific treatment for the disorder, that’s why the treatment is symptomatic (5-aminosalicylate acid, histamine H2 receptor antagonists, anti-tumor necrosis factor alpha agents, immunomodulators). Nutritional supplements are needed to correct the electrolyte and fluid dysbalance.
Treatments proposed include cromolyn sodium and prednisone to reduce the inflammation of the bowels.
Surgical removal of the polypes has also been suggested.