Via Research Recognition Day Program VCOM-Carolinas 2025

Case Reports

Esophageal Melanocytosis in a 51 year old male Tyler Aluisio, OMS-III 1 , Dr Michael Beattie, DO 2 1. Edward Via College of Osteopathic Medicine, Spartanburg, SC 2. Spartanburg Regional Health System, Spartanburg, SC.

Imaging

Discussion

Introduction

• Since EM is so rare, there is minimal background literature and research on its etiology and progression. Although there is no concrete link between EM and PMME, there is a published case of PMME arising from EM (2) and the lack of concrete evidence could be due to the low prevalence of cases • PMME is considered to be rare and extremely aggressive, with an average survival of 10-13 months (3) • Of the limited cases reported worldwide, it seems EM tends to have a male predominance (4) and is typically accompanied by vague dyspepsia symptoms • It has been proposed that there is a link between EM and alcohol abuse, as well as a possible genetic predisposition in those with an inactive ALDH2*1/2*2 gene (4). Some studies also propose a link between EM and GERD (5)

• Esophageal Melanocytosis (EM) is a benign proliferation of melanocytes in the esophageal mucosa. • Melanocytes originate from neural crest cells and migrate through peripheral nerves to the skin and other sites during embryogenesis (1). Melanin is a pigment produced by melanocytes that helps protect the deeper layers of the skin from damaging UV radiation. While melanocytes are primarily found in the skin (figure 1), they can also be found in the iris of the eye and the brain. • This condition has a prevalence of 0.07% – 2.1% (1) and, while there is not enough sufficient evidence to prove that it is a premalignant condition, there are cases in which EM has been linked to Primary Malignant Melanoma of the Esophagus (PMME) • A 51-year-old African American male with complaints of blood in his stool and dyspepsia presented to the gastroenterologist for an evaluation of normocytic anemia. The patient had a history of cigarette smoking and alcohol use with no family history of colon cancer. He had not previously had a screening colonoscopy. • The patient underwent EGD and Colonoscopy. EGD found a “flat, pigmented macule 10 cm proximal to gastroesophageal junction. (figure 2)” The macule was biopsied and the pathology report came back as esophageal melanocytosis. (figure 3) • Given that there is no established treatment and surveillance in the literature, the physician’s plan was to perform a repeat EGD in one year and potentially three years. Case Description

Figure 1. Histology showing pigment-producing melanocytes in the stratum basale layer of the epidermis in skin

Conclusions

• Considering the rarity of EM and the dearth of research on the subject, there is currently no proposed surveillance algorithm from the American College of Gastroenterology • While the occurrence of EM is rare, its possible link to GERD and alcohol use and the potential for transformation into PMME underly the importance of vigilance for gastroenterologists.

Figure 2. “flat, pigmented macule 10 cm proximal to the gastroesophageal junction”

References

1. Thapa, S., Yadav, G. K., Mondal, R., & Phulware, R. H. (2024). Esophageal Melanocytosis. Autopsy & case reports , 14 , e2024487. https://doi.org/10.4322/acr.2024.487 2. Ota, Y., Iwasaki, K., Miyoshi, K., Enomoto, M., Yamada, T., & Nagakawa, Y. (2023, February 4). Malignant melanoma arising from esophageal melanosis and synchronous with esophageal squamous cell carcinoma . American Journal of Case Reports. https://amjcaserep.com/abstract/full/idArt/938617 3. Jora, C., Pankaj, P., Verma, R., Jain, A., & Belho, E. S. (2015). Primary malignant melanoma of the esophagus. Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India , 30 (2), 162 – 164. https://doi.org/10.4103/0972-3919.152983 4. Yokoyama, A., Omori, T., Yokoyama, T. et al. Esophageal melanosis, an endoscopic finding associatedwith squamous cell neoplasms of the upperaerodigestive tract, and inactive aldehyde dehydrogenase-2 in alcoholic Japanese men. J Gastroenterol 40 , 676 – 684 (2005). https://doi.org/10.1007/s00535-005-1610-3 5. Fuju Chang, Harriet Deere; Esophageal Melanocytosis Morphologic Features and Review of the Literature. Arch Pathol Lab Med 1 April 2006; 130 (4): 552 – 557. doi: https://doi.org/10.5858/2006-130-552-EMMFAR

Figure 3. Biopsy of the lesion

2025 Research Recognition Day

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