Sebaceous Adenoma in an Immunosuppressed Male Suggestive of Muir-Torre Syndrome: A Case Report Caitlin F. Porubsky, DO1, Evangelos G. Poulos, MD2, Marcus B. Goodman, DO1 1Philadelphia College of Osteopathic Medicine Dermatology Residency, Roswell, GA Printing: 2 Global Pathology Laboratory Services, Miami Lakes, FL This poster is 48” wide by 36” high. Figure 1. Pink to yellow, However, other haves been reported, such as, genitourinary, breast, INTRODUCTION umbilicated papule on the hematological, endometrial, and central nervous system.5,8,11 The internal It’s designed to be printed on a right nasal sidewall. malignancy may present before or after the cutaneous manifestations of Muir-Torre syndrome (MTS) is a rare genetic disorder that causes internal MTS. In 205 cases of MTS, it is calculated that 12% of cases the cutaneous large malignancy as well as cutaneous manifestations. The criteria for diagnosis are neoplasm appeared concurrently, 22% appeared prior, and 56% of the time 1 having one sebaceous neoplasm and one internal malignancy. The most after a finding of internal malignancy.2 At present, our patient does not have common associated malignancy is colorectal carcinoma. An associated internal an internal malignancy, but will continue to have close monitoring. 2 cancer may appear before, after, and at the same time as the sebaceous tumor. Diagnosis is a clinical one directed by the finding of a sebaceous neoplasm Treatment involves excision of the skin lesion, resection of internal cancer, and an internal cancer.5 This can be expanded to having a high index of Customizing the Content: and/or screening for future malignancies. We present a case of microsatellite suspicion with pathology findings and family history for MTS or colon instability noted in a sebaceous adenoma with implications of possible MTS, in cancer, leading to MMR genetic sequencing or loss of satellite staining on The placeholders in this the background of immunosuppression and no current known malignancy. tissue. Histologically, MTS is most notably categorized by sebaceous neoplasms. The sebaceous neoplasms show lobules of sebocytes with formatted for you. DISCUSSION varying percentage of basaloid cells, and include sebaceous adenoma, CASE REPORT epithelioma, and carcinoma.5,11 3 placeholders to add text, or click A 64 year old Caucasian male presented to our clinic for a complete skin Muir-Torre syndrome (MTS) was first described in 1967 by Muir , and in 1968 by The treatment for MTS is surgical excision for cutaneous and internal 4 examination. His past cutaneous medical history included two squamous cell Torre. It is a rare genodermatosis that predisposes the individual to sebaceous lesions. Sebaceous carcinomas can be excised using Mohs micrographic an icon to add a table, chart, carcinoma in situ and one squamous cell carcinoma. His past medical history neoplasm and internal malignancies, most notably colorectal adenocarcinoma. surgery.5 Fortunately, many of the sebaceous neoplasms in MTS are often was significant for hypertension, hyperlipidemia, gout, and immunosuppression This syndrome is described as a variant of hereditary nonpolyposis colorectal curative with excision.11 Management after diagnosis is monitoring for 1,5 SmartArt graphic, picture or status post right kidney transplant in 1994 for IgA nephropathy. Medications cancer (HNPCC) or Lynch syndrome. It is known to have a higher incidence in internal cancer. Current recommendations include screening in individuals 5 that he takes daily were cyclosporine, azathioprine, prednisone, metoprolol, and males than in females, stating a ratio of 3:2. The mean age for cutaneous with MTS and their first-degree relatives with annual colonoscopy, pelvic multimedia file. atorvastatin. No significant family history reported. manifestations is 53 years, and the internal malignancy may appear prior or after exam, and physical exam for breast, testicular, and prostate.1 It is the discovery the sebaceous neoplasm.5 Our patient was 64 years old when his reasonable to consider renal ultrasounds, upper endoscopy, and thorough The patient presented with a pale pink to yellow, umbilicated papule on the first sebaceous neoplasm was discovered, and at this time, does not have a neurological exam as precautions for the rarer associated malignancies.1,5 right nasal sidewall (Figure 1). The differential diagnosis included sebaceoma, T known visceral malignancy. This case report’s patient undergoes yearly examination, especially due to sebaceous hyperplasia, basal cell carcinoma, and molluscum contagiosum. A MTS is inherited in an autosomal pattern and caused by germline mutations in his history of renal transplant, and does not currently have an internal shave biopsy was performed on the papule after obtaining verbal and written from text, just click the Bullets mismatch repair genes. The mutations cause microsatellite instability, specifically malignancy. The patient will continue to cancer screenings and made aware consent, along with local anesthesia with 1% lidocaine with epinephrine. at MSH2, MLH1, MSH6, and PMS2. The most commonly found gene associated is of his increased risk for colon cancer. button on the Home tab. Histopathological examination revealed this papule to have basaloid cells and MSH2,6 and only a small subset shows mutations in MSH6.7,8 However, a newly mature sebocytes, consistent with a sebaceous adenoma and had noted atypia; described subtype has been described, MTS II, that does not have microsatellite CONCLUSION margins were still involved (Figure 2). This diagnosis led the dermatopathologist instability mutations associated with it but a base excision repair gene mutation If you need more placeholders for to perform further studies which included staining for microsatellite instability in MYH, and shown to be autosomal recessive.5,6 Although MTS is autosomal Our patient shows an unusual presentation for this already rare syndrome as he involved in Muir-Torre syndrome. The studies showed loss of nuclear staining for dominant, immunosuppression has been reported to increase the development had a nephrectomy and status post kidney transplant due to IgA nephropathy titles, MSH2 (Figure 3) and MSH6, suggestive of MTS. of tumors. Two cases of patients’ status post organ transplants that had eruptive years prior. He currently has no known visceral malignancy. His presentation of sebaceous neoplasms while on tacrolimus.9,10 Our patient was on cyclosporine, Our patient underwent Mohs micrographic surgery to ensure clearance and sebaceous adenoma with atypia led to the staining for microsatellite instability. make a copy of what you need and azathioprine, and prednisone for immunosuppression and had a solitary allow for an aesthetically pleasant closure on the nose. We had a discussion The patient has had cancer screenings and will continue to be followed, sebaceous adenoma, but one may reason that these medications increased the about his recent pathology and the possibility of a diagnosis of MTS. The patient allowing for early detection. This interesting case urges practitioners to drag it into place. PowerPoint’s development of the neoplasm. His tumor did reveal loss of nuclear staining for was urged to see a geneticist to have germline testing. We also discussed the remember MTS when pathology of sebaceous neoplasms arise in an atypical MSH2 and MSH6. association with visceral malignancies and the requirement for adequate cancer setting and promote further awareness of this genodermatosis. Smart Guides will help you align it screenings, notifying his primary care physician, and family members that may Clinical findings associated with MTS are a variety of sebaceous neoplasms, be at risk for carrying the mutation. Patient denied any known family history of including sebaceous adenomas, carcinomas, and epitheliomas, and 1 with everything else. cancer, specifically colorectal, at this time. Further follow up with this patient keratoacanthomas. The individual must also have an internal malignancy. REFERENCES will continue. Gastrointestinal malignancy, specifically colorectal adenocarcinoma, is most commonly associated. 1. Jones B, Oh C, Mangold E, Egan CA. Muir-Torre syndrome: Diagnostic and screening guidelines. Australas J Dermatol. 2006;47(4):266-269. Want to use your own pictures 2. Akhtar S, Oza KK, Khan SA, Wright J. Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. J Am Acad Dermatol. 1999;41(5 Pt 1):681-686. Figure 3. (MSH2, 20x). Loss of Figure 2. (Hematoxylin & 3. Muir EG, Bell AJ, Barlow KA. Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face. Br J Surg. instead of ours? No problem! Just eosin, 20x). Basaloid cells nuclear MSH2 expression. 1967;54(3):191-195. and mature sebocytes, 4. Torre D. Multiple sebaceous tumors. Arch Dermatol. 1968;98(5):549-551. with some atypia. 5. John AM, Schwartz RA. Muir-Torre syndrome (MTS): An update and approach to diagnosis and management. J Am Acad Dermatol. 2016;74(3):558-566. right 6. Ponti G, Manfredini M, Pellacani G, Tomasi A. Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome. Clin Chem Lab Med. 2016;54(11):1725-1731. 7. Mahalingam M. MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots. Am J Dermatopathol. 2017;39(4):239-249. Change Picture. Maintain the 8. Tulpule S, Ibrahim H, Osman M, et al. Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma. Case Rep Oncol. 2016;9(1):95-99. proportion of pictures as you resize 9. Shaw KC, Altmayer SA, Driscoll MS. Muir-Torre syndrome: multiple sebaceous neoplasms and visceral malignancy manifesting after cardiac transplantation and iatrogenic immunosuppression. Int J Dermatol. 2017;56(2):e26-e27. 10. Levi Z, Hazazi R, Kedar-Barnes I, et al. Switching from tacrolimus to sirolimus halts the appearance of new sebaceous neoplasms in Muir-Torre syndrome. Am J Transplant. 2007;7(2):476-479. by dragging a corner. 11. Bhaijee F, Brown AS. Muir-Torre syndrome. Arch Pathol Lab Med. 2014;138(12):1685-1689.