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Resident PGY 2
Henry Ford Hospital
HISTORY: A 61 year-old Caucasian man with a history of cardiac transplant in 2014 secondary to non-ischemic cardiomyopathy (on tacrolimus and mycophenolate), sebaceous adenomas, and sebaceous carcinomas presented for full body skin exam. His previous sebaceous carcinomas were on his right neck and right buttock, and were treated with wide local excision and Mohs micrographic surgery, respectively. He denied any specific lesions of concern since his last visit 3 months prior. EXAMINATION: On his right and left forehead, and on left cheek, there were three erythematous papules. The right forehead and left cheek lesions had central ulceration. On dermoscopy, a partial crown of vessels appearance was observed. He also had multiple scattered yellow umbilicated papules across his face. On his right neck and right buttock there were well-appearing scars. The remainder of his examination was unremarkable.HISTOPATHOLOGYThere are numerous hypercellular islands of sebocytes with mitotic figures extending from the epidermis into the dermis. COURSE AND THERAPY: The patient was referred to Mohs, where all three lesions were removed and left to heal by secondary intention. He continues to follow up for skin checks every 3 months. He has yearly upper and lower endoscopies; his most recent were normal in 10/2017. DISCUSSION: Muir-Torre syndrome (MTS) is a familial condition that is characterized by both cutaneous and visceral tumors, and is considered a subset of Lynch syndrome. It is inherited in an autosomal dominant pattern, and is caused by mutations in genes responsible for DNA mismatch repair (MLH1, MSH2, or MSH6). In the case of this patient, MLH1 immunostaining was negative on a previous biopsy.Sebaceous neoplasms, including sebaceous adenomas, sebaceous epitheliomas, and sebaceous carcinomas, are the most typical dermatologic manifestations of MTS. These often present as skin-colored to yellow papules or nodules on the head, neck, and trunk, with or without ulceration. Whereas sebaceous carcinomas are more common around the eye in sporadic cases, they are more likely to be extraocular when associated with MTS. Other potential skin findings of MTS include keratoacanthomas, Fordyce spots, and basal cell epitheliomas with sebaceous differentiation.Immunohistochemistry to stain for proteins corresponding to the aforementioned genes should be performed on all sebaceous neoplasms given their prevalence in patients with MTS and how uncommon they are in the general population. Pending the results of IHC, microsatellite instability and/or germline mutation analysis may be considered. Internal malignancies, most commonly colorectal and urogenital, are an important component of MTS. The family history of this patient includes colon cancer in his mother, maternal grandfather, and maternal uncle, as well as uterine cancer in a cousin. As the cutaneous findings often precede the visceral findings, it is important to diagnose MTS as early as possible to start early preventative cancer screening. As for treatment of the cutaneous neoplasms themselves, surgical removal is first-line. For sebaceous carcinoma specifically, wide local excision or Mohs micrographic surgery with consideration of radiation therapy is recommended. This particular patient had Mohs for all three carcinomas, but declined RT. In addition to routine clinician-performed full body skin examinations, Fotofinder total body mapping has recently been added to his monitoring regimen, demonstrating an exciting and novel application of this technology.
Sagher, Ethan; Oberlin, David M.; and Pritchett, Ellen N., "A Man with Multiple Ulcerated Papules on His Face: A Muir-Torre Story" (2019). Case Reports. 14.