Table 1 Clinical differential diagnosis
From: An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis
Syndrome | Pros | Cons | Conclusion |
|---|---|---|---|
Cowden syndrome | 2 major criteria: macrocephaly, multiple gastrointestinal ganglioneuromas; 2 minor criteria: thyroid gland lesion (adenoma, multinodular goiter), lipomas | no pathognomonic criteria (Cowden-typical mucocutaneous lesions, Lhermitte-Duclos disease) | diagnostic criteria fulfilled |
Neurofibromatosis type I | ganglioneuromas | no neurofibromas, no café-au-lait spots, no gliomas | unlikely |
Multiple endocrine neoplasia (MEN) type IIb | ganglioneuromas | no medullary thyroid cancer no pheochromocytoma no marfanoid habitus no neurofribromas | unlikely |
Atypical/attenuated adenomatous polyposis coli (FAP) and other polyposis syndromes | colorectal adenomas and adenocarcinoma, gastric and duodenal polypoid lesions | multiple lipomas, ganglioneuromatous poylposis | unlikely |