A 62-yr-old @entity1 was referred for management of @entity1412 . Large bowel @entity1127 were initially diagnosed >25 yr ago, and the @entity1 had undergone multiple colonoscopies and polypectomies. Personal and family history were notable for @entity5651 and @entity1375 . Physical examination was notable for @entity1185 . No cutaneous lesions were seen. Upper endoscopy revealed esophageal glycogen acanthosis. There were multiple @entity1127 throughout the stomach and the small and large intestines. Histology of these @entity1127 showed multiple cell types including juvenile @entity1127 , @entity1127 and lamina propria ganglion cells, and focal adenomatous change. A clinical diagnosis of @entity1050 was made. Mutation analysis revealed a variant in exon 8 of the @entity983 gene. Direct sequencing revealed a germline heterozygous C.892-895InsA, which is predicted to result in a truncated @entity983 protein. @entity1050 is an underdiagnosed, underrecognized, @entity74 . For the gastroenterologist, esophageal acanthosis and multiple hamartomatous @entity1127 should suggest the diagnosis. Sensitive molecular diagnostic tests looking for mutations in the appropriate genes are clinically available. Together with genetic counseling, molecular diagnostic testing will allow more accurate risk assessment and surveillance for @entity5 for both the @entity1 and family members.

XXXX and glycogenic acanthosis of the esophagus associated with @entity983 mutation positive @entity1050 in the absence of cutaneous manifestations.

@entity1 :: ('9606', 'Species') :: ['patient', 'man'] @entity1375 :: ('MESH:D007037', 'Disease') :: ['hypothyroidism'] @entity1127 :: ('MESH:D011127', 'Disease') :: ['polyps', 'inflammatory polyps with fibromuscular proliferation'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancer'] @entity1185 :: ('MESH:D010212', 'Disease') :: ['lingular papillomatosis'] @entity1050 :: ('MESH:D006223', 'Disease') :: ['Cowden syndrome'] @entity983 :: ('5728', 'Gene') :: ['PTEN'] @entity5651 :: ('MESH:D006042', 'Disease') :: ['thyroid goiter'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal dominant, inherited syndrome'] @entity1412 :: ('MESH:D011125', 'Disease') :: ['GI polyposis']
@entity1412 :: (MESH:D011125,Disease) :: ['GI polyposis']
