|Year : 2023 | Volume
| Issue : 1 | Page : 47-49
The dark areas of esophagus: Esophageal melanocytosis
Tameem Afroz1, Sistla Radha1, B Sivananda Reddy2, Mohammed Umar Amaan3
1 Department of Anatomical Pathology and Cytology, Aware Gleneagles Global Hospitals, Hyderabad, Telangana, India
2 Department of Hepatology and Gastroenterology, Aware Gleneagles Global Hospitals, Hyderabad, Telangana, India
3 Department of General Surgery, Deccan College of Medical Sciences, Hyderabad, Telangana, India
|Date of Submission||29-Sep-2022|
|Date of Decision||28-Nov-2022|
|Date of Acceptance||30-Nov-2022|
|Date of Web Publication||09-Feb-2023|
Dr. Tameem Afroz
16-9-457/A/1, Old Malakpet, Hyderabad - 500 036, Telangana
Source of Support: None, Conflict of Interest: None
Esophageal melanocytosis characterized by melanocytic proliferation in the epithelium of esophagus is extremely rare disease. Aberrant migration of melanocytes during embryogenesis occurs in a small number of cases. Hence, the occurrence of benign and malignant melanocytic lesions is now known entities in esophagus. Melanocytosis is a benign entity and is very rare with an incidence of 0.07%–2.1%. The etiology of these lesions is not known. Endoscopic, histologic, and staining characteristics of two lesions are described. These cases were diagnosed from 450 endoscopic biopsies studied over a period of 10 months.
Keywords: Benign, esophagus, melanocytosis
|How to cite this article:|
Afroz T, Radha S, Reddy B S, Amaan MU. The dark areas of esophagus: Esophageal melanocytosis. Indian J Med Spec 2023;14:47-9
|How to cite this URL:|
Afroz T, Radha S, Reddy B S, Amaan MU. The dark areas of esophagus: Esophageal melanocytosis. Indian J Med Spec [serial online] 2023 [cited 2023 May 29];14:47-9. Available from: http://www.ijms.in/text.asp?2023/14/1/47/369383
| Introduction|| |
Esophageal melanocytosis is a rare clinical and pathologic entity. Only 35 cases are reported in literature. Most of these cases are from India and Japan. It is characterized by nonatypical melanocyte proliferation in the esophageal mucosa. During embryogenesis, melanocytes migrate to epidermis of skin, hair follicles, oral cavity, uvea, and leptomeninges. Normal esophagus lacks melanin. De la Pava et al. in 1963, first described scattered melanocytes in the basal layers of esophagus.
The incidence of these lesions is 0.07–2.1%. The exact etiology of these lesions is not known These lesions are described in 25%–30% of cases of malignant melanomas. As there are no conclusive studies to suggest that melanocytosis progresses to malignant melanoma, these lesions need to be followed up with repeated endoscopic biopsies. The aim of this paper is to create awareness of this rare entity.
| Case Report|| |
A 79 year old female was admitted with generalized weakness, cough, and fever of 1-week duration. She gave a history of epigastric pain of 1-week duration. She is a known diabetic and hypertensive on treatment. She underwent percutaneous transluminal coronary angioplasty for coronary artery disease. Her COVID RT-PCR was negative. She also tested negative for dengue and typhoid IgM. X-ray chest revealed opacities in both lungs and hazy left lower zone and costophrenic angles. There was basal atelectasis. In view of her epigastric pain, a screening upper gastrointestinal (GI) endoscopy was done. It revealed brownish-black patches in lower esophagus which were noncircumferential [Figure 1]a. There were no ulcers or masses associated. The adjacent mucosa was normal.
|Figure 1: (a) Upper GI endoscopy revealed multiple flat brown pigmented spots in mid and lower 1/3rd of esophagus. (b) Multiple black to brown pigmented patches noted in mid 1/3rd of esophagus. GI: Gastrointestinal|
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A 71-year-old female presented with complaints of retrosternal discomfort, epigastric pain burning sensation, and nausea of 15 days' duration. She vomited once 15 days ago. Her symptoms worsened after food intake. There was no history of loss of appetite or weight. She is a known diabetic and hypertensive on irregular treatment. She was a known case of hypothyroidism hypothyroid on treatment. In view of her symptoms, a screening upper GI endoscopy was done. It revealed multiple black patches in the lower end of esophagus [Figure 1]b. No ulcer or mass was detected. Intervening mucosa was normal. The gastric mucosa was congested and urease test was positive.
| Results|| |
Multiple biopsies were taken in both the cases. Tissue was fixed in 10% buffered formalin and 4 μ thin sections were studied. Sections through biopsies from both the patients revealed fragments of esophageal mucosa. There was acanthosis. Basal layers revealed granular brownish-black pigment [Figure 2]a and [Figure 2]b.
|Figure 2: (a) Esophageal mucosa showing granular brownish black pigment in the basal layers (H and E, ×200). (b) Esophageal mucosa showing granular brownish black pigment in the basal layers (H and E, ×400). (c) Masson-Fontana stain showing black stain in the basal layers (×200). (d) Melan-A positive cells in the mucosal basal layers (×200)|
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This pigment was Perl's and Periodic acid–Schiff (PAS) negative. It is stained black with Masson-Fontana [Figure 2c]. Few of these cells with pigment were seen in the upper layers of the mucosa. These cells were Melan A [Figure 2d] and S-100 positive.
There were no features of dysplasia or malignancy in the biopsies.
| Discussion|| |
Esophageal melanocytosis is a rare benign clinicopathologic entity. The first description of this lesion was given by De La Pava et al. in 1963. Dumas et al. reported in 1990 melanocytes in five esophageal samples out of 65 specimens were removed at autopsy. Thirty-five cases of esophageal melanosis are described in literature. Of these 21 cases were reported from India and six cases from Japan. It is extremely rare in Western countries and only five cases are reported.
The etiology of this lesion is not exactly known. There are two major theories described, one states that abnormal migration of melanocytes during embryogenesis is the cause of melanocytes in esophagus.
The second concept is that multipotent stem cells in the basal layers are thought to be capable of differentiation into melanoblasts in chronic inflammation. In the skin, the number of melanocytes increases due to various stimuli. In the same pattern, due to various substances such as bile fluid and gastric acid, cause esophagitis, and increase the number of melanocytes.
There are various conditions associated with melanocytosis of esophagus such as Laugier–Hunziker syndrome and Addison's disease. Melanocytosis is described in melanoma of esophagus and squamous cell carcinoma in situ.
At endoscopy, these lesions are usually seen in mid and lower esophagus. These lesions are usually flat and irregular. Some lesions are granular spots or linear spots. Our cases had a brownish flat lesion in the lower esophagus.
On H and E sections, these lesions show granular brown pigment in basal layers of squamous epithelium. No atypical features are described. These cells are Masson-Fontana positive, Perl's stain, and PAS stain negative. On immunohistochemistry, these cells express melanocyte markers such as S100, HMB 45, and Melan A. Our cases also revealed similar features.
The differential diagnosis of melanocytosis at endoscopy includes anthracosis, dye ingestion, hemosiderosis, and lipofuscin deposition–pseudo melanosis. The gold standard for diagnosis is histopathology. Histologic differential diagnosis is nevus and malignant melanoma.
The term “melanosis” is a generic term describing brownish-black pigment and dose not specific as melanin. For example, melanosis of ileum, colon, and duodenum contains pseudo melanin that is lipofuscin and melanin without melanocytes. Hence, these esophageal lesions should be termed melanocytosis and the term melanosis should be avoided.
In conclusion, melanocytosis is a rare benign lesion with very few cases described in literature. There are no specific guidelines for treatment and an association with malignant lesions is known. Hence, these patients need to be followed up regularly with endoscopic biopsies to check the progression of the lesions.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]