Sebaceous Adenoma



Sebaceous Adenoma







Sebaceous adenoma (SA) was first reported in 1949 by Van Walbeek1 and was characterized as a benign tumor that presents clinically as a tan, pink, or yellow nodule or papule. It is a very rare benign tumor that is a common finding in Muir-Torre syndrome (MTS), so much so that it has been regarded as pathognomonic for that disorder.2 However, isolated nonsyndromic cases have also been described.3

MTS is a rare cancer predisposition syndrome characterized by unusual cutaneous tumors and internal systemic malignancies.4,5 The cutaneous tumors associated with MTS are primarily SA and sebaceous carcinoma, keratoacanthoma, and basal cell carcinoma.4,5,6 Colorectal adenocarcinoma and genitourinary carcinoma are the most common types of internal malignancies, occurring in 40% and 25% of cases, respectively.6,7

On the eyelids, SA is exceedingly rare. Jagan et al8 identified only 9 cases of SA (0.15%) among 5884 eyelid lesions. Nevertheless, the diagnosis of a solitary SA should raise a strong suspicion of MTS, and these patients, as well as their first-degree relatives, should undergo a systemic evaluation to exclude gastrointestinal and genitourinary malignancy.6 These systemic malignancies may occur many years after the onset of SA so that long-term surveillance is necessary. It is therefore important to counsel all patients with an SA that there is a small increased risk of internal malignancies long after the initial diagnosis of SA.6,9

Sebaceous glands are found abundantly in the eyelids as glands of Zeiss and meibomian glands, and SA on the eyelids can arise from these structures. The tumors are usually small in size, measuring 5 mm or less,10,11 although rarely they can attain a much larger size of up to 2 cm associated with rapid growth.12 SA lesions can also rarely develop in the caruncle, which contains both conjunctival and cutaneous dermal elements.13,14,15 Less commonly they have been reported in the bulbar conjunctiva,16,17,18,19,20 even though sebaceous glands are normally not present in the conjunctiva.13,14,17,21 It is unclear how a tumor of sebaceous origin can arise in the bulbar conjunctiva, but it has been suggested that this might occur from faulty migration of sebaceous gland cells from the caruncle through the nasal bulbar conjunctiva or derived from pluripotent basal cells of the conjunctival epithelium.18 One case of an SA of the cornea has been reported. The mechanism of its development is unknown, but it was suggested to derive from pluripotential limbal epithelial stem cells that differentiated into sebaceous cells, then developed into an SA with intraepithelial growth into the cornea.22 Alternatively, previous trauma could have initiated the development of the SA from conjunctivalization of the cornea.

Fewer than 20 cases of SA involving the eyelid or conjunctiva have been reported.3,9,12,17,23,24,25

The mean patient age at diagnosis of the eyelid lesion was 54.4 years (range 23-83 years), and most patients were male (93%). The upper eyelid was predominantly involved, with rare involvement of the medial canthus.12,24,26,27


Etiology and Pathogenesis

Although SA on the eyelid can be isolated and nonsyndromic, the potential association with MTS is critical because of the high association with internal malignancies,
and these systemic manifestations can develop years after the appearance of the cutaneous lesion. MTS is a rare genodermatosis considered a subtype of hereditary nonpolyposis colorectal cancer. It is an autosomal dominant disorder characterized by the association of cutaneous sebaceous neoplasms and keratoacanthomas associated with a visceral malignancy, characteristically colorectal, or genitourinary carcinoma.28 While cutaneous neoplasms usually occur after the appearance of systemic malignancies in patients with MTS, they develop before any systemic manifestations in 22% of cases.28






Patients with MTS have mutations in DNA mismatch repair genes. These genes encode MMR proteins that are essential for the maintenance of genomic integrity.29 They normally recognize and repair erroneous insertion, deletion, and misincorporation of bases that can arise during DNA replication and recombination or in some forms of DNA damage.30,31 There are four DNA mismatch repair genes involved in MTS that primarily include MSH2 in more than 90% of cells and MLH1 in less than 10%. The involvement of MSH6 or PMS2 is rare.28 Patients with MTS have a germline mutation in one allele of a mismatch repair gene. With the acquisition of a somatic mutation in a second allele, mismatch repair function occurs leading to the accumulation of genetically unstable cells and increased risk of developing certain malignancies.28 When SA is diagnosed by histopathology and immunohistochemistry is negative for MMR protein expression (MLH2 and MSH1),32,33 or the patient has a personal or family history of cancer, a workup for MTS should be conducted.8,28

Sebaceous neoplasms have also been reported in immunocompromised transplant patients34 and those with AIDS.35,36


Clinical Characteristics

SAs are slow-growing skin tumors that usually present as yellow papules that can be mistaken for basal cell carcinoma.29 They have a predilection for the face and scalp, particularly the eyelids due to abundant meibomian and other sebaceous glands in this region.37 They usually are seen in older individuals with a mean age of 50 to 60 years.10,38 Lesions associated with MTS occasionally undergo cystic change, whereas sporadic SA lesions generally do not.39

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Nov 8, 2022 | Posted by in OPHTHALMOLOGY | Comments Off on Sebaceous Adenoma

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