Case 006: 69 Year Old Female with Esophageal “Nodule”

Contributed by Andre Thompson, M.D. and Fadi Ibrahim, M.D., Supervised by Cameila Johns, M.D.

Clinical History

The patient is a 69 year old white female who presented for evaluation of possible gastroesophageal reflux. She has had 2 months history of recurring cough, sore throat, and hoarseness. EGD showed multiple submucosal, yellowish esophageal nodules throughout the esophagus. No evidence of esophagitis was seen.

Endoscopic Findings

Image (1) Endoscopic image: numerous, yellowish submucosal-appearing nodules are scattered throughout the esophagus. Image (2) Endoscopic image: numerous, yellowish submucosal-appearing nodules are scattered throughout the esophagus.

Numerous, yellowish submucosal-appearing nodules are scattered throughout the esophagus.

Gross Findings

The specimen consisted of 7 red-tan soft tissue fragments measuring 0.9 x 0.8 x 0.2 cm in aggregate.

Microscopic Findings

(Click a photo to view a larger image.)

Image (1) H&E, 10x Image (2) H&E, 20x Image (3) H&E, 40x

Microscopic Diagnosis

Ectopic Sebaceous glands in the Esophageal submucosa.

The overlying nonkeratinizing squamous epithelium is normal.

No significant inflammatory infiltrate or hair follicles are present.

No evidence of gastro-esophageal reflux disease was identified.

Discussion

In the first half of the 20th century, ectopic sebaceous glands were observed at a variety of ectodermally derived sites in humans, but the first observation of sebaceous glands in an endodermally derived organ such as the esophagus was reported by De La Pava and Pickren in 1961 when they coincidentally discovered microscopic evidence of ectopic sebaceous gland tissue in the esophagus of 4 adult cadavers. In 1978, the first endoscopic observation of ectopic sebaceous gland in the esophagus was reported by Rhamakrishnan and Brinker.

No specific clinical symptoms attributable to esophageal ectopic sebaceous glands have been identified until now, although some may present with symptoms of heartburn like the patient of this case.

Endoscopically, yellowish nodules varying in numbers (from 1 to 100) and size (1-8 mm in diameter) may be present separately or clustered in plaques that can be located anywhere along the esophageal mucosa (Bertoni et al).

Microscopically, a normal squamous epithelium is usually present, with underlying submucosal lobules exhibiting characteristic morphological features of sebaceous glands. In some case, a moderate, nonspecific inflammatory reaction has been observed next to the sebaceous lobules, and an irritative effect due to some lipidic substance secreted by the glands has been postulated.

The embryonic origin of these ectopic glands has been of great interest since the esophagus is derived mostly from the endodermal layer. A congenital embryological error (ectopic origin) is a possibility, but a large autopsy study performed in infants and children failed to detect even one case of esophageal sebaceous glands. Thus, an acquired metaplastic origin is more likely. The esophagus is known to contain mucous glands reminiscent of salivary glands. In a study of 539 parotid glands, 8.5% were found to contain sebaceous glands. Such glands are considered to represent metaplasia (acquired differentiation). Thus, if sebaceous gland metaplasia occurs so often in major salivary glands, it is not surprising that some of the numerous esophageal mucous gland lobules undergo metaplasia as well.

Several factors have been postulated as possible causes of this metaplasia, including lifestyle (smoking and drinking), prolonged GERD, and dyslipidemia. However, very little evidence exists to support a possible pathogenetic role of any of these factors in the evolution of this condition.

Endoscopic follow-up of some of the reported cases did not reveal significant variation in number or size of the lesions. Malignant transformation of these lesions has never been reported.

References

  1. Nakada T, Inoue F, Iwasaki M, Nagayama K, Tanaka T. Ectopic Sebaceous glands in the esophagus. Am J Gastroenterol. 1995 mar; 90(3):501-3.
  2. Hoshika K, Inoue S, Mizuno M, Iida M, Shimizu M. endoscopic detection of ectopic multiple minute sebaceous glands in the esophagus. Dig Dis Sci. 1995 Feb;40(2):287-90.
  3. Bertoni G, Sassatelli R, Nigrisoli E, Conigliaro R, Bedogni G. ectopic sebaceous glands in the esophagus. Am J Gastroentrol. 1994 Oct;89(10):1884-7.
  4. Ramakrishnan T, Brinker JE. Ectopic sebaceous glands in the esophagus. Gastrointest Endosc. 1978 Nov;24(6):293-4
  5. Delapava S, Pickren JW. Ectopic sebaceous glands in the esophagus. Arch Pathl. 1962 May;73:397-9.