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Sebaceous Carcinoma of the Eyelid and Muir-Torre Syndrome

Anne-Sophie Gauthier, MD1; Nelly Campolmi, MD2; Perle Tumahai, MD1; Bernadette Kantelip, PhD3; Bernard Delbosc, PhD1
[+] Author Affiliations
1Department of Ophthalmology, University Hospital, Besançon, France
2Department of Ophthalmology, University Hospital, Saint-Étienne, France
3Department of Pathology, University Hospital, Besançon, France
JAMA Ophthalmol. 2014;132(8):1025-1028. doi:10.1001/jamaophthalmol.2014.1026.
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Muir-Torre syndrome (MTS) is a rare autosomal dominantly inherited disease, subtype of Lynch syndrome II, caused by DNA mismatch repair proteins.1 It is characterized by the association of tumors of the sebaceous glands and/or multiple keratoacanthomas and visceral neoplasia. We report the first case, to our knowledge, of MTS associated with sebaceous carcinoma of the upper eyelid, adrenocortical adenoma, and carcinoma of the colon. We highlight the important role of the ophthalmologist in the potential early diagnosis of MTS in patients presenting with conjunctivocutaneous sebaceous adenomas. Correct and early diagnosis may save the life of a patient with MTS. Prognosis depends on the management of colorectal disease.

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Figure 1.
Clinical Photographs of Sebaceous Carcinoma and Computed Tomographic and Positron Emission Tomographic Images of Adrenal Lesion

A, Clinical photograph of a periocular sebaceous carcinoma involving the right upper eyelid with a nodular, subcutaneous, painless, white-yellow lesion that was resistant to medical treatment. B, Conjunctival hyperemia and deposits of white flaky material. This appears to be an atypical chalazion or malignant neoplastic lesions. C, Computed tomographic image of the left adrenal lesion. D, Positron emission tomographic image of the left adrenal lesion.

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Figure 2.
Histological Analysis

A, Full-thickness eyelid excision revealed sebaceous carcinoma represented by a lobular proliferation of atypical cells in the conjunctival portion of the upper eyelid (hematoxylin-eosin, original magnification ×40). B, The proliferation is composed of neoplastic cells, some of which showed a sebaceous differentiation with bubbly vacuolated or foamy cytoplasm (hematoxylin-eosin, original magnification ×400). Sebaceous carcinoma with mutL homolog 1 immunostaining (C), mutS homolog 2 immunostaining (D), mutS homolog 6 immunostaining (E), and postmeiotic segregation increased 2 immunostaining (F) (original magnification ×400).

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