Non-neoplastic disorders of the esophagus come in a great variety of forms, including structural abnormalities, inflammatory, infectious, traumatic, vascular, and those associated with systemic diseases. Some entities are mostly diagnosed by radiologic and endoscopic examination and, if examined via biopsy, they do not show specific histopathologic features; examples of these are esophageal rings and webs. Some others, however, require careful histopathologic examination, such as reflux, eosinophilic esophagitis, and infectious processes.
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Structural abnormalities
Congenital
Esophageal atresia and tracheoesophageal fistula
Clinical features
These anomalies result from the failure of the foregut to completely divide into the esophagus and trachea. This separation occurs in the fourth week of gestation. This anomaly is slightly more common in males and occurs in 1 of every 4500 live births. The affected babies have food regurgitation, salivation, cyanosis, and aspiration. Sometimes they are associated with a trisomy (21, 18, and partial 13) or with the VACTERL (vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esophageal atresia, renal agenesis and dysplasia, and limb defects) association.
Definition
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Congenital anomalies resulting from failure of the foregut to divide into trachea and esophagus during the fourth week of embryonic development.
Incidence and location
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Occurs in 1 of every 4500 live births.
Gender and age distribution
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Occurs in the newborn.
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Slight male predominance.
Clinical features
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Food regurgitation, drooling, and aspiration.
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One form of tracheoesophageal (TE) fistula, the H shape, may be overlooked and diagnosed later in older children with repeated bouts of pneumonia.
Radiologic features
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Anteroposterior and lateral x-ray films show the catheter in the upper esophageal blind pouch.
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When TE fistula exists, the distal esophagus and stomach are filled with air.
Prognosis and therapy
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Excellent prognosis if diagnosis and surgical correction occur early.
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The presence of associated anomalies (trisomies) changes the outlook.
Radiologic features
Anteroposterior and lateral x-ray images of the chest and neck show a catheter inside the upper esophageal pouch while the distal esophagus and stomach contain air coming from the tracheoesophageal (TE) fistula.
Pathologic features
Gross findings
Esophageal atresias, with or without tracheoesophageal fistulas, are of five different types ( Fig. 1-1 ). Type C is the most common, accounting for 85% of the cases ( Figs. 1-2 and 1-3 ). The E type (also known as H because of its shape) may be overlooked and diagnosed in older children with repeated bouts of pneumonia.
Gross findings
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There are five types of atresia with or without tracheoesophageal fistula (see Fig. 1-1 ).
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The most common is type C, which occurs in 85% of the cases.
Differential diagnosis
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Congenital esophageal stenosis may mimic atresia.
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Careful radiologic examination will differentiate them both.
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In congenital pyloric stenosis, the x-ray film will demonstrate esophageal integrity with air trapped in the stomach.
Differential diagnosis
These entities should be differentiated from the less common congenital esophageal stenosis ( Fig. 1-4 ). This anomaly demonstrates a significant narrowing of the midesophagus resulting from a web or muscular hypertrophy. Another entity, congenital pyloric stenosis, presents with projectile vomiting, and x-ray films show esophageal integrity and air trapped in the stomach.
Prognosis and therapy
Early diagnosis with prompt surgical repair confers an excellent prognosis. Associated anomalies such as trisomies change the outlook for these babies. Children born with the VACTERL association tend to fare better.
Duplications and cysts
These congenital anomalies are not always easy to differentiate from one another. Esophageal duplication accounts for 10% to 20% of all gastrointestinal duplications and is the result of a morphogenetic abnormality occurring around the fifth to eighth week of gestation. Cysts can be classified as bronchogenic, enteric, or neuroenteric.
Clinical features
Patients experience feeding difficulties or respiratory distress during childhood. In some cases, the anomaly remains asymptomatic and is discovered during a routine chest x-ray examination.
Definition
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Congenital anomalies caused by failure of normal development around the fifth to eighth week of gestation
Incidence and location
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Duplications are seen in 1 in 8000 autopsies
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Accounts for 10% to 20% of all gastrointestinal duplications
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Located in lower third of esophagus, protruding into the posterior mediastinum
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Bronchogenic cysts protrude into the anterior mediastinum
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Enteric/neuroenteric cysts occupy the posterior mediastinum
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Neuroenteric cysts can have an hourglass configuration
Gender and age distribution
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No apparent gender preference
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Symptoms present in early childhood
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Some cases remain asymptomatic and are discovered on routine chest x-ray films
Clinical features
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Feeding difficulties and respiratory distress
Radiologic features
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Duplications are seen on x-ray films as intramural defects in the lower third of the esophagus
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Bronchogenic cysts show as a mass protruding into the anterior mediastinum.
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Neuroenteric cysts are associated with vertebral anomalies.
Prognosis and therapy
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Good prognosis with adequate surgical resection
Radiologic features
In duplication, the radiologic finding is that of an intramural defect, mostly in the lower third of the esophagus, protruding into the posterior mediastinum. Bronchogenic cysts occur anteriorly, while enteric or neuroenteric cysts appear in the posterior mediastinum, usually in association with hemivertebrae or spina bifida.
Pathologic features
Gross findings
Duplications occur in the lower esophagus in 60% of cases; they are intramural and noncommunicating. Cysts measure on average 5 cm in diameter. Bronchogenic cysts present anteriorly and contain a rim of cartilage. Enteric/neuroenteric cysts sometimes have an hourglass shape, with one portion in the posterior mediastinum and the other inside the vertebral canal.
Microscopic findings
Duplications are located within the esophageal wall and have intact muscle layers ( Fig. 1-5 ). The epithelial linings of either duplications or cysts may have squamous, cuboidal, or ciliated epithelium ( Fig. 1-6 ). Most bronchogenic cysts contain cartilage in their walls.
Gross findings
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Duplication appears as an intramural mass in the lower esophagus.
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Cysts are on average 5 cm in diameter.
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Bronchogenic cysts may show a rim of cartilage on gross examination.
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Neuroenteric cysts may have an hourglass appearance with one component in the posterior mediastinum and the other inside the vertebral canal.
Microscopic findings
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Duplications have a complete muscle layer.
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Bronchogenic cysts contain cartilage in their walls.
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Duplication cysts can be lined by squamous, cuboidal, or ciliated epithelium.
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Neuroenteric cysts are lined with intestinal epithelium or gastric mucosa.
Differential diagnosis
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Diverticula are acquired conditions.
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Diverticula communicate with the esophageal lumen.
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Diverticula are lined by squamous epithelium.
Differential diagnosis
Differential diagnosis includes acquired diverticula. These lesions occur in adults and always communicate with the esophageal lumen. The lining is squamous epithelial but may show erosions and ulcerations.
Prognosis and therapy
Adequate surgical resection confers a good prognosis.
Epithelial ectopias: gastric heterotopia/inlet patch and heterotopic sebaceous glands
Clinical features
Gastric heterotopia is mostly asymptomatic and is found incidentally during endoscopy (4%). Sometimes it is associated with dyspepsia and a burning sensation. Less often, peptic ulceration and strictures develop. Rarely, malignant transformation occurs. Heterotopic sebaceous glands are asymptomatic.
Definition
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Heterotopic gastric mucosa in esophagus
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Heterotopic sebaceous glands in esophagus
Incidence and location
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Meticulous autopsy studies have revealed a high incidence of heterotopic gastric mucosa (70%); at endoscopy they are present in 4% of individuals.
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Heterotopic gastric mucosa is mostly localized in the proximal esophagus.
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Heterotopic sebaceous glands are present in 4% of individuals.
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Heterotopic sebaceous glands can be solitary or multiple.
Gender and age distribution
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No apparent gender preference
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Found in all age groups, but highest incidence in first year of life
Clinical features
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Gastric heterotopia is mostly asymptomatic; occasionally it may cause dysphagia.
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Complications include ulcerations and strictures.
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Heterotopic sebaceous glands are asymptomatic.
Prognosis and therapy
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Good prognosis. Treatment with antacids is indicated in symptomatic cases of gastric heterotopia.
Pathologic features
Gross findings
The gross endoscopic features reveal a well-demarcated round to oval patch of salmon-colored mucosa with sharp borders. This lesion is seen in the proximal portion of the esophagus. Meticulous autopsy studies have revealed a high incidence of heterotopic gastric mucosa (70%). Heterotopic sebaceous glands can be solitary or multiple, presenting as yellowish bumps.
Microscopic findings
Microscopic examination reveals gastric mucosa of the cardiac, fundic, or mixed type ( Figs. 1-7 and 1-8 ). Acute inflammation and erosions can be seen. Heterotopic sebaceous glands look identical to their skin counterparts ( Figs. 1-9 and 1-10 ).
Gross findings
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Gastric heterotopias are round to oval patches of salmon-colored mucosa in the proximal esophagus.
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Sebaceous heterotopias appear as single or multiple yellowish bumps.
Microscopic findings
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Fundic, cardiac, or mixed mucosae are seen, sometimes inflamed or with erosions.
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Sebaceous glands are indistinguishable from their skin counterparts.
Differential diagnosis
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The presence of gastric mucosa in the esophagus must be distinguished from Barrett’s esophagus. Gastric heterotopia is mostly localized in the proximal esophagus and rarely shows intestinal metaplasia.
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Sebaceous heterotopia may be confused grossly with glycogenic acanthosis.
Differential diagnosis
Heterotopic gastric mucosa must be distinguished from Barrett’s esophagus. The proximal location of the former distinguishes it from the latter. Heterotopic gastric mucosa rarely develops intestinal metaplasia. Multiple sebaceous heterotopias may look to the endoscopist similar to another asymptomatic entity called glycogenic acanthosis . The latter is characterized by white patches and histologically reveals excess glycogen in the mature squamous cells of the upper mucosal layers.
Acquired
Diverticula (zenker’s, midesophagus, and epiphrenic)
Clinical features
Clinical symptoms vary depending on the location of the lesion. Diverticulum, located in the uppermost portion of the esophagus (Zenker’s), provokes dysphagia, regurgitation, halitosis, and aspiration. These symptoms usually present in middle-aged and older adults. A gurgling sound upon swallowing and a neck mass are sometimes present. No single etiologic mechanism has been found to explain its formation, but reduced upper esophageal sphincter compliance may be the cause. Midesophageal diverticulum may be asymptomatic and develops as a result of mediastinal inflammatory diseases such as tuberculosis. The epiphrenic diverticulum is located in the distal esophagus and is symptomatic due to its coexistence with hiatal hernia or diaphragmatic eventration. Disorders of the esophageal musculature appear to be the cause of middle and lower diverticula.
Definition
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Outpouchings of esophagus of acquired nature; localized in upper, middle, and lower esophagus
Incidence and location
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Zenker’s diverticulum is the most common (70%).
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Zenker’s diverticulum is located at the junction between the pharynx and esophagus in an area called the Killian triangle .
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Midesophageal diverticulum is less common and occurs at the level of tracheal bifurcation.
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Epiphrenic diverticulum is located in the lower esophagus and accompanies hiatal hernia.
Gender and age distribution
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Mostly seen in middle-aged and older adults
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No gender preference
Clinical features
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When the sac is small, it may be asymptomatic.
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In large Zenker’s diverticulum, dysphagia, a gurgling sound, and a neck mass may develop.
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Regurgitation of food eaten several hours before is quite characteristic.
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Inflammatory diseases of the mediastinum sometimes accompany the midesophageal diverticulum; they are mostly asymptomatic.
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Hiatal hernia is seen in association with epiphrenic diverticulum.
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Motility abnormalities are the most acceptable causes of these lesions.
Radiologic features
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Barium esophagography is the best technique to demonstrate the three types of diverticula.
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Esophagography during the oropharyngeal phase of swallowing is the best diagnostic procedure to demonstrate Zenker’s diverticulum.
Prognosis and therapy
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Prognosis depends on the size of the lesion and associated inflammatory conditions.
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Large diverticula are treated with surgical resection and myomectomy.
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Small asymptomatic ones are not treated surgically.
Differential diagnosis
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Pseudodiverticula, either single or multiple (DEIP), are dilatations of submucosal glands and lack muscle wall of their own.
Radiologic features
These lesions are best demonstrated during barium esophagography. Zenker’s diverticulum is best observed during the oropharyngeal phase of swallowing. Midesophageal diverticula are seen as outpouches during barium esophagography performed for other causes. The epiphrenic diverticulum is also easily diagnosed via barium esophagography.
Pathologic features
Gross findings
Zenker’s diverticulum is a pouch located at the level of the pharyngoesophageal junction, a weak point in the wall between the inferior constrictor muscle of the pharynx and the fibers of the cricopharyngeal muscle. This triangular area is known as the triangle of Killian ( Fig. 1-11 ). The diverticula vary in size and may be filled with necrotic debris. The midesophageal diverticulum (also called traction diverticulum) is located at the level of the tracheal bifurcation, sometimes with adhesions to mediastinal lymph nodes involved with tuberculosis ( Figs. 1-12 and 1-13 ). The epiphrenic diverticulum lies close to the diaphragm and is seen in association with a hiatal hernia.
Microscopic features
All three are true diverticula because they are lined with squamous epithelium and contain a muscle wall that is at times attenuated ( Fig. 1-14 ). Inflammation with ulceration usually develops. Carcinoma has been seen in Zenker’s diverticulum in 0.3% of the cases.
Gross findings
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Zenker’s diverticulum is a sac at the pharyngoesophageal junction.
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Mid-diverticulum occurs at the level of bifurcation of the trachea.
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Epiphrenic diverticulum occurs in the lower 10 cm of the esophagus.
Microscopic findings
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Composed of all layers of the esophagus, but the muscle layer is attenuated.
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Lined by stratified squamous mucosa.
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Mucosa may become inflamed and ulcerated.
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In 0.3% of cases, carcinoma develops in Zenker’s diverticulum.
Differential diagnosis
Diverticula should be differentiated from pseudodiverticula, which are cystic dilatations of submucosal glands, lacking a separate muscle coat. A peculiar entity called diffuse esophageal intramural pseudodiverticulosis (DEIP) is also in the differential diagnosis, presenting with dysphagia. The radiologic examination with contrast media shows multiple minute outpouchings in the esophageal wall. This entity is associated with diabetes, alcoholism, candidiasis, and chronic granulomatous disease.
Prognosis and therapy
Prognosis depends on the size of the diverticulum and on whether it is complicated by ulceration and hemorrhage. Large diverticula are treated with diverticulectomy and esophagomyotomy. Small ones do not require surgical intervention.
Esophageal webs and rings
These lesions are common and are mostly acquired, except for the rare congenital esophageal stenosis. They are concentric or eccentric narrowings of the esophageal lumen.
Clinical features
Webs are found in 4% to 10% of autopsies. Clinically they are seen in 5% to 15% of patients presenting with dysphagia and choking sensation. Symptomatic webs occur in women older than 40 complaining of dysphagia and odynophagia. The now rare Plummer-Vinson syndrome consists of iron deficiency anemia, glossitis, cheilosis, and an upper esophageal web ( Fig. 1-15 ).
Rings are found in 0.7% to 16% of autopsies, and their pathogenesis is debatable. Those found in the lower esophagus are called Schatzki’s ring.
Definition
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Acquired disorders provoking concentric or eccentric narrowing of the esophageal lumen
Incidence and location
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Rings and webs are common abnormalities of the esophagus.
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Autopsy incidence of rings is 10%; that of webs is 16%.
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Webs are more common in the upper portion, rings in the lower.
Gender and age distribution
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More common in women older than age 40 years
Clinical features
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Mostly asymptomatic
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Dysphagia and odynophagia are common symptoms.
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Upper esophageal webs are associated with the now rare Plummer-Vinson syndrome.
Radiologic features
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Notches or curvilinear shadows seen in a full-column barium examination
Prognosis and therapy
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Generally good prognosis
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Change of dietary habits in mild cases; dilation or surgery in more symptomatic cases
Radiologic features
These lesions are seen on a full-column barium examination. They form notches, curvilinear shadows, or thin membranous filling defects. Lower rings are seen in association with hiatal hernias.
Pathologic features
Gross findings
Endoscopic examination reveals rings and webs as mucosal foldings or indentations of a pale, pink color. Ulceration is sometimes seen.
Microscopic findings
Webs are covered by squamous mucosa with edematous, inflamed submucosa. Lower rings and webs have squamous mucosa on their proximal side and columnar epithelium on the distal side. Still others are the result not of mucosal foldings but of localized annular muscular thickenings.
Gross findings
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Mucosal foldings or indentations seen on endoscopic examination
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Lower rings show mucosal pallor and sometimes ulceration.
Microscopic findings
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Webs are covered by squamous mucosa, sometimes inflamed.
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Lower rings have squamous mucosa on the proximal side and columnar epithelium on the distal side.
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Some lower rings show localized muscular thickening.
Differential diagnosis
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Main differential diagnosis is postinflammatory stenosis resulting from reflux or lye strictures.
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Significant scarring fibrosis is found in these entities.
Differential diagnosis
Postinflammatory stenosis, occurring after a long-standing reflux or a stenosis secondary to corrosive agents, is in the differential diagnosis. Lye strictures are mostly located at the level of the tracheal bifurcation, whereas reflux is mostly in the lower esophagus. Marked submucosal fibrosis in both entities is a characteristic finding.
Prognosis and therapy
Mild symptoms can be treated with dietary modifications. Dilation is the treatment of choice, and surgical therapy is left to those refractory to dilation.
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Motility disorders
Normal esophageal motility is a complex mechanism requiring intact, coordinated autonomic innervation. Inadequate function leads to dysmotility disorders, which can be divided into the spastic variety and achalasia. Spastic disorders are now commonly encountered with the increased use of endoscopy. Achalasia is relatively uncommon, with a prevalence of less than 10 cases per 10 5 population.
Clinical features
Clinical symptoms depend on the underlying peristaltic abnormality. Spastic disorders such as episodic dysphagia with an angina-like chest pain occur in two types of motility disorders. One, occurring primarily in men, consists of repetitive, high-amplitude, nonperistaltic contractions of the esophageal smooth muscle; the other is called nutcracker esophagus and consists of peristaltic, high-amplitude contractions. A third entity, characterized by diffuse esophageal spasms (corkscrew esophagus) , also causes severe dysphagia. In achalasia, the abnormality consists of aperistalsis, lack of lower esophageal sphincter (LES) relaxation and increased intraesophageal pressure. Patients are 20 to 40 years of age and complain of progressive dysphagia, regurgitation, and aspiration. Systemic disorders such as scleroderma, muscular dystrophies, amyloidosis, and Chagas disease also affect the normal peristaltic mechanism. The incidence of squamous cell carcinoma is increased in patients with achalasia.
Definition
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Disease entities affecting the normal coordination of swallowing and peristalsis
Incidence and location
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Motility disorders affect the entire esophageal length.
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Spastic disorders are recognized with the increased use of manometric studies in patients complaining of noncardiac chest pain.
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Achalasia is an uncommon disorder with a prevalence of fewer than 10 cases per 10 5 population.
Gender and age distribution
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Achalasia patients are 20 to 40 years of age, and both sexes are affected equally.
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Spastic disorders occur mainly in men.
Clinical features
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Severe episodic dysphagia and angina-type chest pain are typical of spastic disorders.
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Achalasia presents with progressive dysphagia, regurgitation, aspiration, and weight loss.
Radiologic features
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In achalasia, contrast swallow discloses progressive dilatation of the esophagus with lack of relaxation at the LES and a characteristic beaklike deformity in the distal esophagus.
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The same method is used for spastic disorders to help differentiate them.
Prognosis and therapy
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Prognosis depends on early diagnosis and treatment.
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Treatment modalities for achalasia include botulinum toxin injections and pneumatic dilation.
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Treatment for spastic disorders includes nitrates, sedatives, botulinum toxin, and pneumatic dilation.
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Careful follow-up is recommended for achalasia patients resulting from their increased risk for developing squamous cell carcinoma.
Radiologic features
Barium swallow studies with videofluoroscopy and manometry demonstrate variable degrees of spasticity and dilatation of the esophageal lumen, depending on the underlying dysmotility disorder.
Pathologic features
Gross findings
Endoscopic examination in cases of achalasia shows dilatation of the lumen, prominent vascularity, and pooled debris adherent to the wall ( Figs. 1-16 and 1-17 ). In some cases, reflux changes and strictures are present. Spastic disorders reveal atypical contractions.
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