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Sebaceous adenomas (SA) are rare tumours that have commonly been regarded as pathognomonic of the rare autosomal dominant cancer predisposition syndrome, Muir–Torre syndrome.
We present 2 cases of isolated eyelid SA and examine their clinical features and investigations for association with Muir–Torre syndrome.
Two unrelated male patients, 51 and 57 years old, respectively, presented with very slowly enlarging upper eyelid lesions that had been present for over a year. Neither patient had a personal or family history of cancer. On examination, both lesions were 4–5 mm in maximum diameter and were well-circumscribed, yellow, exophytic, and verrucous papules with surface telangiectasis (Fig. 1). Excision biopsy followed by histological examination found both lesions to be SA. Immunohistochemistry work-up showed normal expression of DNA mismatch repair (MMR) proteins, including MSH2, MSH6, MLH1, and PMS2. Neither patient has had recurrence or evidence of tumours elsewhere at 6-month follow-up.
Fig. 1Two separate cases (top and bottom) of solitary sebaceous adenomas of the left upper eyelid, showing features of a yellow well-circumscribed pedunculated and verrucous papilla with overlying capillaries on the surface.
SA is a benign and slow-growing skin tumour. It usually bears the appearance of a well-circumscribed exophytic yellow papule that is often mistaken as basal cell carcinoma.
Identification of SA is crucial because of its association with Muir–Torre syndrome. In Muir–Torre syndrome, germline mutations in MMR genes result in regions of DNA microsatellite instability and subsequent increased risk of developing internal malignancies, commonly colorectal and genitourinary carcinomas.
After histopathological diagnosis of SA, immunohistochemistry of MMR protein expression should be conducted. If these identify abnormal (negative staining) protein expression or the patient has a personal or family history of cancer, a systemic or oncological work-up for Muir–Torre syndrome is indicated.
Loss of DNA mismatch repair proteins in skin tumors from patients with Muir–Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test.
Testing for microsatellite instability by assessing the Bethesda microsatellite markers may also be performed, with the use of polymerase chain reaction, in conjunction with immunohistochemistry.
In the present cases, SA was diagnosed in the absence of any other cancer history as well as MMR protein expression abnormalities. Using a guideline proposed by Jagan et al. for eyelid lesions, further systemic work-up for such cases is not necessary.
Nevertheless, it is important to counsel patients as to the small increased risk of internal malignancies even years after the initial diagnosis of SA.
Loss of DNA mismatch repair proteins in skin tumors from patients with Muir–Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test.
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