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Sebaceoma of the eyelid: a rare entity Sebaceoma is a distinctive and rare benign adnexal neoplasm with sebaceous differentiation.1 Morphologic spectrum of sebaceoma extends from that observed in sebaceous adenoma to histology that may be challenging to differentiate from the more lethal sebaceous gland carcinoma (SGC).2 Sebaceoma occurs mostly on the face or scalp, and can occur in isolation or in association with other sebaceous neoplasms or as a component of the Muir–Torre syndrome (MTS).3 Eyelid sebaceoma is a rare entity and has been reported in dermatologic literature.4 However, to the best of our knowledge, there exists only 1 report of well-documented eyelid sebaceoma in ophthalmic literature.5 An 81-year-old male presented with a painless, progressively increasing right upper eyelid growth of about 5 months’ duration. Systemic and family histories were noncontributory. Clinical examination showed a firm, nodular, circumscribed mass measuring 4  4  3 mm with an ulcerated surface (Fig. 1A); the mass appeared to be arising from the tarsal border. On eyelid eversion, the overlying palpebral conjunctiva appeared congested. The lid margin appeared thickened but regular without loss of eyelashes. Regional lymph nodes were not clinically

palpable. Systemic examination was unremarkable. Biopsy was performed with a clinical diagnosis of a granuloma/ prolapsed chalazion excision. Microscopic examination showed surface epithelium of eyelid skin with central superficial ulceration. A tumour was seen in connection with the overlying epithelium, arranged in irregularly shaped cell masses and variably sized lobules (Fig. 1B). Two types of cells were present in the lobules with a predominant population (more than 50%) of undifferentiated basaloid cells (Fig. 1B). There was focal peripheral palisading, but notable absence of stromal changes characteristic of basal cell carcinoma (BCC). Occasional typical mitoses were noted in the basaloid cells with absence of definite cytologic atypia. The cells of the second type, placed more toward the centre of the lobules, were mature sebaceous cells with foamy, vacuolated to eosinophilic cytoplasm and bland nuclear morphology. Intermediate cells, scattered cystic spaces, and sebaceous ducts were observed. Cells with foamy to vacuolated cytoplasm failed to stain with periodic acid–Schiff, mucicarmine, and Alcian blue stains. A diagnosis of sebaceoma of the eyelid was made. Immunohistochemical (IHC) stains including adipophilin (Fig. 1C) and epithelial membrane antigen (EMA) highlighted the differentiated sebaceous cells. Ki-67 showed a

Fig. 1 — A, Temporally located eyelid margin growth with surface ulceration and clinically well-delineated borders. Although the tarsal edge appears widened, there was no associated induration or loss of the eyelashes. B, The tumour is in continuation with the overlying epidermis and is composed of variably sized lobules and cell masses. The majority of tumour cells are undifferentiated basaloid cells with small islands of cells with abundant foamy to vacuolated cytoplasm. Hematoxylin and eosin stain. Original magnification 100. C, Immunohistochemical staining with adipophilin has highlighted the cells with sebaceous differentiation. Original magnification 400. D, Ki-67 antibody highlights the basaloid (undifferentiated) cells in a proliferative state (KI-67). Original magnification 400.

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Correspondence Table 1—Clinical and histopathologic features of eyelid sebaceous tumours with significant morphologic overlap Characteristics Clinical Features Location Surface Induration Loss of meibomian gland orifices Loss of eyelashes Lid margin Histopathological Features Connection with the overlying epidermis Organoid nature of lesional cells Sebaceous differentiation Basaloid differentiation Atypia Typical mitoses Atypical mitoses Necrosis Invasiveness

Sebaceous Adenoma

Sebaceoma

Sebaceous Gland Carcinoma

Lid margin Fine papillae – – – Intact

Lid margin May be ulcerated – – – Intact

Tarsal plate Nodular or ulcerated þ þ þ Infiltrated

þ/– þþþ 450% o50% Absent Few in basaloid cells – – –

–/þ þþ o50% 450% Mild nuclear atypia, rare nucleolar atypia May be numerous in basaloid cells – – –

þ/– –/þ o50% 450% Considerable nuclear and nucleolar atypia Numerous þ þ/– þ

þ, present; –, absent.

proliferation index of 5% to 6% in the basaloid cells (Fig. 1D). Lesional cells were positive for MLH1 and MSH2 and negative for MSH6. There was no history of the patient or any of his family members being affected by visceral neoplasms. A systemic evaluation did not reveal any abnormality. At 24 months, there has been no local recurrence, and the patient’s systemic examinations continue to be normal. Sebaceoma is a rare benign adnexal neoplasm with sebaceous differentiation. In 1 study of 207 sebaceous neoplasms, the incidence rate of sebaceoma was reported to be 1.6%,6 and none was an eyelid sebaceoma. Sebaceoma is seen more commonly on the face and scalp as a solitary, circumscribed, greyish white nodule with yellowish areas. It can even present as an ill-defined nodular lesion with plaquelike areas and rolled-out borders resembling BCC.7 Sebaceoma needs to be differentiated from sebaceous adenoma, SGC (Table 1), sebaceous differentiation in a BCC, and tumours with clear-cell change. Presentation of sebaceous adenoma and sebaceoma may be similar: Both can be centred in the dermis or show extensive association with the overlying epidermis.3,8 Association with the overlying epidermis, however, is not common with sebaceoma. To the best of our knowledge, the only other report of well-documented eyelid sebaceoma in ophthalmic literature5 describes a lesion centered completely in the dermis, unlike our case, which showed association with the overlying epidermis, a feature more commonly encountered with sebaceous adenoma and SGC. On histopathology, sebaceous adenoma is identified by a more organoid nature, greater sebocyte differentiation, a basaloid component of less than 50%, absence of cytologic atypia,2,3 and absence or presence of occasional mitoses in the basaloid cells. Sebaceoma, by comparison, shows an undifferentiated component of more than 50% of cells and can exhibit mild nuclear atypia with typical mitotic figures in the basaloid cells. However, a notable absence of considerable cytologic, nuclear, and nucleolar atypia, brisk

mitotic activity, atypical mitoses, necrosis, and invasiveness differentiates sebaceoma from SGC. Sebaceoma lacks the typical stromal changes seen in BCC with sebaceous differentiation. Malignant neoplasms with clear-cell change generally show absence of sebaceous differentiation, confirmed on histochemical stains such as Oil Red O and IHC markers such as adipophilin, EMA, and CK-7.3,8 Sebaceomas histologically occupy an intermediate position in the spectrum spanning the obviously benign sebaceous adenoma and the aggressively malignant SGC. Malignant transformation of recurrent sebaceoma of the pre-auricular region has been reported.7 Given the extreme rarity of this entity in the periocular region,4,5 it may pose a diagnostic challenge both clinically and histologically. Wide excision biopsy, thorough tissue sampling, and strict histologic criteria should be met before arriving at a diagnosis of sebaceoma. This is especially pertinent to the ocular adnexal region to exclude a component of the more common infiltrative SGC. Close follow-up of the patient is necessary postoperatively for early detection of a possible recurrence. Although sebaceous adenoma is the most distinctive cutaneous marker for MTS, sebaceoma can also be associated with this syndrome, clinically diagnosed in patients with a sebaceous tumour and a visceral malignancy (typically gastrointestinal or genitourinary).9 IHC testing corroborates the clinical diagnosis. Germline mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, and MSH6 are present in MTS, and mutations in MSH2 are more likely compared with the other genes.10 Loss of these MMR proteins can be detected reliably by demonstrating loss of nuclear reactivity in tumour cells on immunohistochemistry. However, up to 40% of sebaceous neoplasms may show loss of staining with MMR proteins in the absence of any syndromic disorder. In contrast, patients with MTS have been shown to have sebaceous lesions with retention of staining with MMR proteins.10 Given this reported variability in IHC proteins, we may not definitely exclude MTS in our patient (positive for MLH1 and CAN J OPHTHALMOL — VOL. 49, NO. 3, JUNE 2014

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Correspondence MSH2, and negative for MSH6). However, certain clinical features that raise the suspicion for MTS, such as age younger than 50 years, sebaceous neoplasm in a nonhead and neck location, more than 1 sebaceous neoplasm, malignant histopathologic features on biopsy, and family history of visceral cancer,10 were all conspicuously absent in our patient. Nevertheless, we believe it to be prudent practice to keep the patient under close surveillance for possible development of malignancy in the future. Ruchi Mittal, Devjyoti Tripathy L V Prasad Eye Institute, Bhubaneswar, India Correspondence to: Ruchi Mittal, MD: [email protected] REFERENCES 1. Troy JL, Ackerman AB. Sebaceoma. A distinctive benign neoplasm of adnexal epithelium differentiating toward sebaceous cells. Am J Dermatopathol. 1984;6:7-13. 2. Ahmed TS, Priore JD, Seykora JT. Tumors of the epidermal appendages. In: Elder DE, editor. Histopathology of the Skin, 10th ed. New Delhi, India: Wolters Kluwer: 2009. 851-909.

Bilateral choroidal neovascularization associated with basal laminar drusen in a 31-year-old Basal laminar drusen (BLD) were first described by Gass1 in 1977 and identified by their clinical and fluorescein angiographic characteristics, which include the findings of multiple small, yellow deposits at the level of the retinal pigment epithelium (RPE) that become more apparent with fluorescein angiography (FA). Further study led to the identification of these drusen as discrete but clustered lesions found between the basal lamina of the RPE and Bruch’s membrane. Immunohistochemically, BLD are indistinguishable

3. Lazar AJ, Lyle S, Calonje E. Sebaceous neoplasia and Torre-Muir syndrome. Curr Diagn Pathol. 2007;13:301-19. 4. Misago N, Mihara I, Ansai S, Narisawa Y. Sebaceoma and related neoplasms with sebaceous differentiation. A clinicopathologic study of 30 Cases. Am J Dermatopathol. 2002;24:294-304. 5. Yonekawa Y, Jakobiec FA, Zakka FR, Fay A. Sebaceoma of the eyelid. Ophthalmology. 2012;119:2645. 6. Manonukul J, Kajornvuthidej S. Sebaceous neoplasms in Siriraj Hospital, Mahidol University: a 9-year-retrospective study. J Med Assoc Thai. 2010;93:978-91. 7. Al-Khashnam H, Burezq H, Al-Aradi I, Al-Sabah H, Al-Abdulhadi K. Unusual malignant transformation of recurrent sebaceoma. A case report. Clin Med Oncol. 2008;2:389-92. 8. Shalin SC, Lyle S, Calonje E, Lazar AJ. Sebaceous neoplasia and the Muir-Torre syndrome: important connections with clinical implications. Histopathology. 2010;56:133-47. 9. Roberts ME, Riegert-Johnson DL, Thomas BC, et al. Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms. J Genet Counsel. 2013; 22:393-405. 10. Ko CJ. Muir-Torre syndrome: facts and controversies. Clin Dermatol. 2010;28:324-9. Can J Ophthalmol 2014;49:e78–e80 0008-4182/14/$-see front matter & 2014 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jcjo.2014.03.014

from drusen associated with aging and nonexudative agerelated macular degeneration (AMD).2 Genetic and environmental risk factors are now known to exist for the progression of BLD to AMD.3 Choroidal neovascular membranes (CNVMs) may occur, and do so at a younger age than those associated with AMD.4 Little is reported about the occurrence of CNVMs in young patients with BLD or about the response to treatment. In this study, we report a case of BLD complicated by bilateral CNVMs in a very young patient with excellent response to bevacizumab (Avastin; Genentech, South San Francisco, Calif.). A 31-year-old male with no significant medical or ocular history presented with blurred vision as if “looking through

Fig. 1 — Colour fundus photographs show the basal laminar drusen as faint, yellow, subretinal deposits in both eyes. There is also subretinal hemorrhage and fluid in the right eye corresponding to the choroidal neovascular membrane.

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Sebaceoma of the eyelid: a rare entity.

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