glycogen and Esophageal-Diseases

Cowden's disease is a rare autosomal dominant condition characterized by multiple hamartomas of ectodermal, endodermal, and mesodermal origin affecting many organ systems. Gastrointestinal manifestation includes the formation of multiple polyps of various benign histopathological types throughout the alimentary tract. Recent literature suggests that the frequency of gastrointestinal involvement is approximately 70-85%. The diagnosis of Cowden's disease, however, relies mainly on subtle dermatologic findings, which may not be obvious to the gastroenterologist. We describe a patient with Cowden's disease and review the English literature on the topic of gastrointestinal polyposis and Cowden's disease. These studies suggest that gastrointestinal polyposis is commonly found in this disease, and that diffuse esophageal glycogenic acanthosis is a characteristic feature of Cowden's disease. We propose that the finding of extensive glycogenic acanthosis in the presence of other benign gastrointestinal polyposis should be considered pathognomonic for the diagnosis of Cowden's disease.

Topics: Colonic Polyps; Duodenal Neoplasms; Esophageal Diseases; Esophagoscopy; Ganglioneuroma; Glycogen; Hamartoma Syndrome, Multiple; Humans; Hyperplasia; Intestinal Polyps; Jejunal Neoplasms; Lipoma; Male; Middle Aged

Glycogenic acanthosis is a common benign lesion of the esophagus; however, reports of extra-esophageal manifestations are exceedingly rare. This case represents the first report of laryngeal glycogenic acanthosis found in a living patient, presenting as vocal fold leukoplakia. Glycogenic acanthosis may be considered among the differential diagnoses of conditions presenting as vocal fold leukoplakia. Laryngoscope, 132:1641-1643, 2022.

Topics: Esophageal Diseases; Glycogen; Humans; Laryngeal Diseases; Leukoplakia; Vocal Cords

To evaluate the incidence of insulin resistance and metabolic syndrome (MetS) in patients with glycogenic acanthosis (GA).. Thirty patients with GA, detected upon endoscopy, and 30 age- and sex-matched control patients without GA were included in this case-control study. Patients with GA were considered group 1 and control group was considered group 2. Anthropometric measurements [height, weight, and waist circumference (WC)], biochemical parameters [fasting plasma glucose (FPG), triglyceride, high-density lipoprotein (HDL), and low-density lipoprotein (LDL)], and serum fasting insulin levels were evaluated. Insulin resistance (IR) was estimated by the homeostatic model assessment of IR. MetS was diagnosed using the criteria of the National Cholesterol Education Program Adult Treatment Panel III. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated to evaluate associations with GA.. There were no differences in terms of FPG, triglyceride, HDL, and LDL between groups (p-values 0.118, 0.114, 0.192, 0.086, respectively). WC was significantly higher in group 1 than in group 2 (103.77 vs 97.03, p=0.032). The number of patients with IR and MetS were significantly higher in group 1 than in group 2 (53.3% vs 13.3%, p=0.003 and 53.3% vs 23.3%, p=0.034). ORs [95% CI] of WC, IR, and MetS for GA were 0.68 [0.17-2.62], 7.12 [1.89-26.72], and 4.11 [1.04-16.21], respectively.. These findings showed that IR and MetS were significantly associated with the presence of GA.

Topics: Adult; Case-Control Studies; Esophageal Diseases; Female; Glycogen; Humans; Incidence; Insulin; Insulin Resistance; Male; Metabolic Syndrome; Middle Aged; Risk Factors; Waist Circumference

Glycogenic acanthosis is described as benign thickening of the esophageal squamous epithelium of unknown etiology. Although its etiology is unknown, it has been reported that glycogenic acanthosis may be related to gastroesophageal reflux and hiatal hernia. The aim of the present study was to review the patients who were diagnosed with glycogenic acanthosis on upper gastrointestinal endoscopy and to determine whether there is any association between glycogenic acanthosis and gastroesophageal reflux and hiatal hernia.. A total of 504 patients who underwent upper gastrointestinal endoscopy for evaluation of non-ulcer dyspepsia were reviewed retrospectively.. Glycogenic acanthosis was detected in 143 (28.3%) of those 504 patients. Of the 143 patients, 82 (57.3%) were male and 61 (42.7%) were female. Patients with glycogenic acanthosis were aged 20-83 years. Gastroesophageal reflux was detected in 50 (34.9%) cases with glycogenic acanthosis, while hiatal hernia was detected in 30 (20.9%) cases. Gastroesophageal reflux was detected in 102 (28.2%) control subjects, while hiatal hernia was detected in 50 (13.8%). Hiatal hernia was significantly higher in glycogenic acanthosis patients than in controls subjects (p<0.05). Glycogenic acanthosis patients had higher gastroesophageal reflux than seen in controls subjects, but the difference between groups was not statistically significant (p>0.05).. Our results suggest that glycogenic acanthosis is primarily an age-related disease. We demonstrated that glycogenic acanthosis may be associated with gastroesophageal reflux and hiatal hernia. Further studies are necessary to confirm these findings.

Topics: Adult; Age Factors; Aged; Aged, 80 and over; Case-Control Studies; Endoscopy, Gastrointestinal; Esophageal Diseases; Female; Gastroesophageal Reflux; Glycogen; Hernia, Hiatal; Humans; Hyperplasia; Male; Middle Aged; Retrospective Studies; Young Adult

Cowden syndrome is characterized by diffuse hamartomas involving the whole digestive tract. The gastrointestinal expression of the disease is inconstant, but hamartomatous polyposes are frequent. In a multicenter study we studied the endoscopic appearance of Cowden syndrome--as defined by fulfillment of international consortium criteria--in 10 patients. In 6 of the 10 patients the connection with Cowden syndrome was made retrospectively on the basis of the gastrointestinal endoscopic findings. All patients had upper and lower gastrointestinal tract involvement. Mean follow-up duration was 9.5 years (range: 2-26 years). Mean age was 37 years (range: 18-56 years). Polyps of the upper gastrointestinal tract were hamartomas, ganglioneuromas, lipomas, and adenomas. Diffuse glycogenic acanthosis was reported in nine patients. Besides the classical hamartomatous polyposis, diffuse macroscopic esophageal acanthosis and microscopic ganglioneuromatosis are other key findings associated with a diagnosis of Cowden syndrome. Physicians should be aware of these characteristics in order to diagnose Cowden syndrome early.

Topics: Adenoma; Adolescent; Adult; Colonic Polyps; Colonoscopy; Endoscopy, Digestive System; Esophageal Diseases; Female; Ganglioneuroma; Glycogen; Hamartoma Syndrome, Multiple; Humans; Intestinal Neoplasms; Male; Middle Aged; Retrospective Studies; Stomach Neoplasms; Young Adult

Topics: Deglutition Disorders; Diagnosis, Differential; Esophageal Diseases; Gastroesophageal Reflux; Glycogen; Humans; Male; Middle Aged; Radiography

Topics: Biopsy; Diagnosis, Differential; Esophageal Diseases; Esophagoscopy; Female; Glycogen; Humans; Hyperplasia; Middle Aged; Mucous Membrane; Vocal Cords

A 6-y-old boy and an 8-y-old girl were admitted to our clinic with anaemia and failure to thrive. Laboratory tests revealed iron deficiency anaemia and positive antigliadin antibodies in both of the patients. Slightly raised grey-white plaques were observed on oesophageal mucosa during endoscopical investigation of the patients. While intestinal mucosal samples confirmed diagnosis of celiac disease histologically, histopathological assessment of oesophageal lesions demonstrated glycogenic acanthosis. Since glycogenic acanthosis associated with celiac disease hasn't been reported in the literature previously to our knowledge, case reports of our patients were presented.. We suggest that glycogenic acanthosis needs to be investigated as a possible new association of celiac disease in greater paediatric series.

Topics: Celiac Disease; Child; Esophageal Diseases; Esophagoscopy; Esophagus; Female; Glycogen; Humans; Intestinal Mucosa; Male

A 62-yr-old man was referred for management of GI polyposis. Large bowel polyps were initially diagnosed >25 yr ago, and the patient had undergone multiple colonoscopies and polypectomies. Personal and family history were notable for thyroid goiter and hypothyroidism. Physical examination was notable for lingular papillomatosis. No cutaneous lesions were seen. Upper endoscopy revealed esophageal glycogen acanthosis. There were multiple polyps throughout the stomach and the small and large intestines. Histology of these polyps showed multiple cell types including juvenile polyps, inflammatory polyps with fibromuscular proliferation and lamina propria ganglion cells, and focal adenomatous change. A clinical diagnosis of Cowden syndrome was made. Mutation analysis revealed a variant in exon 8 of the PTEN gene. Direct sequencing revealed a germline heterozygous C.892-895InsA, which is predicted to result in a truncated PTEN protein. Cowden syndrome is an underdiagnosed, underrecognized, autosomal dominant, inherited syndrome. For the gastroenterologist, esophageal acanthosis and multiple hamartomatous polyps 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 cancer for both the patient and family members.

Topics: Endoscopy; Esophageal Diseases; Esophagus; Gastrointestinal Neoplasms; Germ-Line Mutation; Glycogen; Hamartoma Syndrome, Multiple; Humans; Hyperplasia; Male; Middle Aged; Mucous Membrane; Pedigree; Phosphoric Monoester Hydrolases; Polyps; PTEN Phosphohydrolase; Skin Diseases; Tumor Suppressor Proteins

To analyze the relationship between Lugol unstained areas and their histologic features, we applied the Lugol test to 24 specimens of resected esophagus. The staining patterns were graded into four types: grade I, hyperstaining; grade II, normal greenish brown staining; grade III, less intense staining; and grade IV, unstained. Most of the grade IV lesions were invasive carcinomas, carcinomas in situ, or severe dysplasia. The carcinomas in situ and the intraepithelial extension of the carcinomas, which were difficult to detect, were clearly shown as grade IV. On the other hand, moderate to mild dysplasia or atrophy showed grade III staining. Grade IV lesions showed well-demarcated sharp margins, whereas grade III lesions showed ill-demarcated dull margins. The grade III carcinomas, however, by the Lugol test, showed well-demarcated margins. Histologic evaluation disclosed that the staining intensity reflected well the thickness of the glycogen-containing cell layer in the lesion. The sharpness of the margin reflected the abrupt or gradual change from the glycogen-containing to non-containing cell layers. These findings suggest 1) the usefulness of the staining pattern of the Lugol test for the diagnosis of esophageal lesions such as squamous cell carcinoma and severe dysplasia, and 2) the usefulness of the Lugol test for precise delineation of the proximal resection line during surgery of esophageal carcinomas with unexpected wide extension.

Topics: Atrophy; Carcinoma in Situ; Carcinoma, Squamous Cell; Esophageal Diseases; Esophageal Neoplasms; Esophagitis; Esophagus; Glycogen; Humans; Iodides; Staining and Labeling

A nodular appearance of the esophageal mucosa, observed in 3.5% of 2,328 consecutive upper endoscopic examinations, most commonly appeared as multiple, uniformly sized, oval or round elevations usually < 1 cm, involving otherwise normal esophageal mucosa. Endoscopic biopsies in 35 consecutive patients followed prospectively demonstrated the nodules to represent glycogenic acanthosis--a combination of cellular hyperplasia and increased cellular glycogen. When studied by 24-h ambulatory esophageal pH monitoring, 83% of these patients had pathologic gastroesophageal acid reflux; mean percentage of time with pH < 4.0 was 37.3%. Antireflux therapy improved symptoms in all patients but failed to eradicate the lesions of glycogenic acanthosis. Although its etiology and pathogenesis still remain elusive, glycogenic acanthosis may be related to gastroesophageal reflux.

Topics: Adult; Aged; Biopsy; California; Esophageal Diseases; Esophagoscopy; Esophagus; Gastric Acidity Determination; Gastroesophageal Reflux; Glycogen; Humans; Hydrogen-Ion Concentration; Middle Aged; Mucous Membrane; Prospective Studies

Diagnostic features of glycogenic acanthosis of the esophagus on air-contrast radiography, endoscopy, and histopathologic studies in 10 selected cases are presented. Glycogenic acanthosis of the esophagus is a common benign entity, characterized by multifocal plaques of hyperplastic squamous epithelium with abundant intracellular glycogen deposits. At esophagoscopy or on autopsy specimens these lesions appear as slightly raised grey-white plaques which are usually 2-10 mm in diameter and may be confluent. They cause a finely nodular or cobblestone mucosal pattern demonstrable on double-contrast views of the well-distended esophagus. The findings are not associated with mucosal ulcerations, luminal narrowing, or mobility disturbance, although some patients may have coexistent hiatal hernia and gastroesophageal reflux.

Topics: Aged; Esophageal Diseases; Esophagoscopy; Female; Glycogen; Humans; Hyperplasia; Male; Middle Aged; Radiography

A nodular appearance of the esophageal mucosa was observed in 28.3% of 300 consecutive double-contrast esophagrams. This most commonly appeared as numerous uniformly sized, usually less than 3 mm, subtle, round elevations involving the entire esophageal surface. When carefully performed, endoscopy will almost always confirm these findings. Endoscopic biopsies performed in 10 patients demonstrated the nodules to represent glycogenic acanthosis--a combination of cellular hyperplasia and increased cellular glycogen. The radiographic appearance of these nodules, while usually characteristic, may vary and they may simulate pathologic processes, particularly moniliasis. Distinction can usually be made by clinical and radiologic criteria. Although the etiology is unknown, this seems to be of no clinical significance.

Topics: Adult; Aged; Biopsy; Diagnosis, Differential; Esophageal Diseases; Esophagoscopy; Esophagus; Female; Glycogen; Humans; Hyperplasia; Male; Middle Aged; Radiography

Topics: Aged; Endoscopy; Esophageal Diseases; Female; Gastrointestinal Motility; Glycogen; Humans; Mucous Membrane; Radiography

During 160 consecutive fiberoptic endoscopic examinations, glycogenic acanthosis was diagnosed in 24 patients. The endoscopic diagnosis was confirmed histologically in the first 14 patients from whom biopsies were obtained. No correlation with any other disease affecting the gastrointestinal tract was found including reflux esophagitis. This common benign condition must be differentiated from lesions of similar appearance and more important prognostic significance.

Topics: Biopsy; Esophageal Diseases; Esophagitis, Peptic; Esophagoscopy; Esophagus; Female; Fiber Optic Technology; Glycogen; Humans; Hyperplasia; Male; Prognosis

Topics: Esophageal Diseases; Esophagoscopy; Gastroesophageal Reflux; Glycogen; Hernia, Hiatal; Humans; Mucous Membrane

Topics: Endoscopy; Esophageal Diseases; Esophagitis; Fiber Optic Technology; Glycogen; Humans

Topics: Aged; Alcoholism; Autopsy; Biopsy; Diagnosis, Differential; Endoscopy; Epithelium; Esophageal Diseases; Esophagitis; Esophagoscopy; Esophagus; Gastroesophageal Reflux; Glycogen; Humans; Hyperplasia; Intestinal Mucosa; Leukoplakia; Male; Middle Aged; Periodic Acid; Smoking; Staining and Labeling

Topics: Aged; Autopsy; Carcinoma, Squamous Cell; Epithelium; Esophageal Diseases; Esophageal Neoplasms; Esophagus; Female; Glycogen; Humans; Hyperplasia; Hypertrophy; Leukoplakia; Male; Middle Aged; Precancerous Conditions