Cronkhite-canada syndrome Q87.82

Very rare, non-familial, non-juvenile polyposis syndrome (see hereditary polyposis syndromes below), which often occurs in combination with gastrointestinal carcinomas, skin changes, eye malformations, spasticity and severe developmental delay.

After the age of 50.

Generalized intestinal polyposis: malabsorption, therapy-resistant diarrhoea with electrolyte and protein losses. Universal, non-scarring alopecia of all terminal hairs, onychodystrophy and skin pigmentation in the form of pinhead-sized, roundish, brownish lentigines on the palms of the hands and soles of the feet. Also periungual. Also hypopigmentation. Mental retardation with cramps, spasticity, scoliosis, microphthalmia, secondary ectropion, amaurosis, cryptorchidism, growth retardation.

Digital rectal examination, recto/colonoscopy, HD endoscopy (=high definition endioscopy). If necessary, rectal endosonography for larger rectal adenomas to clarify endoscopic ablation and depth of penetration (carcinoma formation). Possibly MRI sellink of the small intestine and video capsule endoscopy to detect small intestinal polyps in hereditary polyposis syndrome.

Unfavourable: lethal outcome in 50% of cases, on average 18 months after the onset of refractory diarrhoea. Risk of colorectal cancer is not increased.

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