Sebaceous Adenoma Clinical Presentation
- Author: Dirk M Elston, MD; Chief Editor: William D James, MD more...
Patients with sebaceous adenomas typically experience a gradual onset of small, usually less than 0.5 cm in diameter (2-4 mm), smooth, yellow, sometimes speckled papules with central umbilication on the skin of the face or scalp over a period of several months.
Some middle-aged and older individuals may have multiple papules (as described above) or nondescript papules on their faces or other parts of their skin surface.
Sebaceous adenomas range from less than 1 cm (usually 2-4 mm) to greater than 5 cm in maximum dimension. Tumors most frequently appear as a yellow, speckled, smooth-surfaced, circumscribed papule or nodule (see image below).
At times, these tumors have a polypoid appearance or central umbilication. Sebaceous adenomas sometimes present as tan or pink-to-red papules.
Tumors are commonly located on the face, the scalp, and the neck. Occasionally, tumors may be seen at other sites, including the trunk and the legs.
The clinical impression prior to the time of biopsy is usually that of basal cell carcinoma or a nondescript papule without definitive clinical diagnosis. See the image below.
Sebaceous adenomas form part of the spectrum of the Muir-Torre syndrome. A genetic predisposition exists in some cases of the Muir-Torre syndrome, and this syndrome has been found in association with the so-called cancer family syndrome.
The identification of a truncating germline mutation in the mismatch repair (MMR) gene, hMLH1 or hMSH2, by DNA molecular genetic study in some patients having cystic sebaceous tumors with Muir-Torre syndrome highlights the value of recognizing cutaneous markers of internal malignancy.
In 1999, Rütten et al studied 19 patients with Muir-Torre syndrome using DNA molecular genetic analysis and reported that 8 (42%) of these patients presented with a cystic variant of sebaceous tumors (including sebaceous adenomas). They concluded that the cystic sebaceous neoplasm is a marker for the MMR-deficient subtype of Muir-Torre syndrome and is associated with a high risk for developing internal malignancies later in life.
The genetic disorder in Muir-Torre syndrome is an autosomal dominant inherited germline mutation in one of the DNA mismatch repair genes, most commonly hMSH2. It is inherited with a high degree of penetrance and variable expression, with a male-to-female ratio of 3:2. Children of an individual with Muir-Torre syndrome, therefore, may have a 50% risk of inheriting the cancer predisposition. In families in which the germline mutation can be identified, those individuals who have inherited the mutation should undergo regular screening examinations, particularly of the gastrointestinal tract, colorectum, genitourinary tract, and female genital tract.
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