URMC / Pathology & Laboratory Medicine / Education / Case of the Month / Case 48: Granular Esophageal Lesions / Diagnosis

Diagnosis

Sebaceous Heterotopia (SH) of the Esophagus

Discussion

Sebaceous glands constitute holocrine glands associated with hair follicles, that are typically present in the facial skin, buccal mucosa, lip, and labia minora. SH of the esophagus is a rare, benign finding and thus far malignant transformation has not been reported. There are less than 40 cases discussed in the literature. A review of 21,5046 endoscopic studies identified 6 cases and a systemic evaluation of 200 autopsies revealed 4 cases of SH of the esophagus, which illustrates the rarity of this finding. SH is more commonly seen in males with a mean age of 55 at presentation. Patients may be asymptomatic or more commonly symptoms of reflux or nonspecific peptic symptomatology are reported. Single or multiple lesions may be seen and most are generally small (< 5 mm) in size. Endoscopically, these lesions may appear elevated or plaque-like, and often have a yellowish coloration, if large, they may appear suspicious for a neoplastic process. Histologically, SH of the esophagus demonstrates benign lobules of sebaceous glands within the lamina propria and if immunostains are utilized the cells would be positive for high-molecular weight keratins and EMA. Entities in the differential diagnosis include glycogenic acanthosis or xanthoma. In glycogenic acanthosis, the cells would not have a bubbly, vacuolated appearance due to glycogen accumulation, and thus these would be PAS positive and diastase sensitive. In xanthoma, aggregates of histiocytes with a foamy or bubbly appearance would be seen and these cells would be keratin negative and CD68 positive by immunohistochemical stain.

There remains ongoing debate about the etiology of esophageal SH. The esophagus is of endodermal origin while sebaceous glands are ectodermal in origin; more specifically arising from buds of the epidermal root sheet of the hair follicle. While a congenital anomaly is a possibility, it seems less likely, because SH of the esophagus has not been described in children and is more commonly found in middle aged adults. Another explanation could be metaplasia of squamous epithelium or esophageal glands. Irrespective of this, it is an entirely benign process.

References

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