Cronkhite-Canada Syndrome
Differential Diagnosis
| Cronkhite-Canada Syndrome |
Juvenile Polyposis |
| Most colorectal polyps sessile |
Most colorectal polyps polypoid |
| Hair, nail, skin changes present |
No associated ectodermal changes |
| No dysplasia |
Infrequent cases may have focal dysplasia |
| Not familial |
Autosomal dominant, 75% are new mutations without family history |
The gastrointestinal polyps are largely indistinguishable
| Cronkhite-Canada Syndrome |
Cowden Disease |
| Hair, nail, skin pigmentation changes present |
Most have facial mucocutaneous lesions, see description |
| No association with breast hamartomas or carcinomas |
Frequent breast hamartomas and carcinomas |
| No association with thyroid carcinomas |
Frequent thyroid carcinomas |
| PTEN mutations not seen |
PTEN mutations in 80% |
| Not familial |
Autosomal dominant (half are new mutations without family history) |
The gastrointestinal polyps are largely indistinguishable
| Cronkhite-Canada Syndrome |
Peutz-Jeghers Syndrome |
| May have facial pigmented macules but no mucosal involvement described |
Mucocutaneous hyperpigmentation |
| Hair, nail, skin pigmentation changes present |
Internal neoplasms and non-GI polyps may occur |
| Smooth muscle absent or only small amounts in lamina propria |
Prominent arborizing smooth muscle bundles in GI polyps |
| Frequent mucous retention cysts |
Lacks retention cysts |
| Lacks pseudoinvasion |
May have displaced mucosa with pseudoinvasion of underlying muscularis propria |
| Not familial |
Autosomal dominant |
The polyps in some cases are indistinguishable
The polyps in some cases are indistinguishable
On biopsy, the polyps and polypoid mucosa in some cases are indistinguishable and both are associated with protein losing enteropathy
