Muir-Torre Syndrome Differential Diagnoses

  • Author: Victor G Prieto, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 29, 2010
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Victor G Prieto, MD, PhD  Director of Dermatopathology, Professor, Departments of Pathology and Dermatology, University of Texas MD Anderson Cancer Center

Victor G Prieto, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American Medical Association, American Society for Clinical Pathology, American Society of Dermatopathology, College of American Pathologists, European Society of Pathology, International Society of Dermatopathology, Society for Investigative Dermatology, and United States and Canadian Academy of Pathology

Disclosure: Nothing to disclose.

Specialty Editor Board

David P Fivenson, MD  Associate Director, St Joseph Mercy Hospital Dermatology Program, Ann Arbor, Michigan

David P Fivenson, MD is a member of the following medical societies: American Academy of Dermatology, Medical Dermatology Society, Michigan Dermatological Society, Michigan State Medical Society, Photomedicine Society, Society for Investigative Dermatology, and Wound Healing Society

Disclosure: Nothing to disclose.

Richard P Vinson, MD  Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Warren R Heymann, MD  Head, Division of Dermatology, Professor, Department of Internal Medicine, University of Medicine and Dentistry of New Jersey

Warren R Heymann, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

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  2. Dores GM, Curtis RE, Toro JR, Devesa SS, Fraumeni JF Jr. Incidence of cutaneous sebaceous carcinoma and risk of associated neoplasms: insight into Muir-Torre syndrome. Cancer. Dec 15 2008;113(12):3372-81. [Medline].

  3. Honchel R, Halling KC, Schaid DJ, Pittelkow M, Thibodeau SN. Microsatellite instability in Muir-Torre syndrome. Cancer Res. Mar 1 1994;54(5):1159-63. [Medline].

  4. Ponti G, Losi L, Pedroni M, et al. Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. J Invest Dermatol. Oct 2006;126(10):2302-7. [Medline].

  5. Hare HH, Mahendraker N, Sarwate S, Tangella K. Muir-Torre syndrome: a rare but important disorder. Cutis. Oct 2008;82(4):252-6. [Medline].

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  8. Lynch HT, Fusaro RM, Roberts L, Voorhees GJ, Lynch JF. Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome. Br J Dermatol. Sep 1985;113(3):295-301. [Medline].

  9. Kruse R, Rutten A, Lamberti C, et al. Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet. Jul 1998;63(1):63-70. [Medline].

  10. Singh RS, Grayson W, Redston M, et al. Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia. Am J Surg Pathol. Jun 2008;32(6):936-42. [Medline].

  11. Ivan D, Prieto VG, Esmaeli B, Wistuba II, Tang X, Lazar AJ. Epidermal growth factor receptor (EGFR) expression in periocular and extraocular sebaceous carcinoma. J Cutan Pathol. Feb 2010;37(2):231-6. [Medline].

  12. Kazakov DV, Kutzner H, Spagnolo DV, Rütten A, Mukensnabl P, Michal M. Discordant architectural and cytological features in cutaneous sebaceous neoplasms--a classification dilemma: report of 5 cases. Am J Dermatopathol. Feb 2009;31(1):31-6. [Medline].

  13. Tanyi M, Olasz J, Lukacs G, et al. A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas. Eur J Surg Oncol. Oct 2009;35(10):1128-30. [Medline].

  14. Chakravarti N, El-Naggar AK, Lotan R, et al. Expression of retinoid receptors in sebaceous cell carcinoma. J Cutan Pathol. Jan 2006;33(1):10-7. [Medline].

  15. Abbas O, Mahalingam M. Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm. J Cutan Pathol. Jun 2009;36(6):613-9. [Medline].

  16. Ho VH, Ross MI, Prieto VG, Khaleeq A, Kim S, Esmaeli B. Sentinel lymph node biopsy for sebaceous cell carcinoma and melanoma of the ocular adnexa. Arch Otolaryngol Head Neck Surg. Aug 2007;133(8):820-6. [Medline].

  17. Kruse R, Rütten A, Schweiger N, et al. Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias. J Invest Dermatol. May 2003;120(5):858-64. [Medline].

  18. Mathiak M, Rutten A, Mangold E, et al. Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test. Am J Surg Pathol. Mar 2002;26(3):338-43. [Medline].

  19. Ponti G, Losi L, Di Gregorio C, et al. Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry. Cancer. Mar 1 2005;103(5):1018-25. [Medline].

  20. Spielvogel RL, DeVillez RL, Roberts LC. Oral isotretinoin therapy for familial Muir-Torre syndrome. J Am Acad Dermatol. Mar 1985;12(3):475-80. [Medline].

  21. Graefe T, Wollina U, Schulz H, Burgdorf W. Muir-Torre syndrome - treatment with isotretinoin and interferon alpha-2a can prevent tumour development. Dermatology. 2000;200(4):331-3. [Medline].

  22. Pancholi A, Collins D, Lindley R, Gandhi P. Muir-Torre syndrome: a case report and screening recommendations. Ann R Coll Surg Engl. Nov 2008;90(8):W9-10. [Medline].

  23. Cohen PR, Kohn SR, Kurzrock R. Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome. Am J Med. May 1991;90(5):606-13. [Medline].

  24. Rao NA, Hidayat AA, McLean IW, Zimmerman LE. Sebaceous carcinomas of the ocular adnexa: A clinicopathologic study of 104 cases, with five-year follow-up data. Hum Pathol. Feb 1982;13(2):113-22. [Medline].

  25. Schwartz RA, Torre DP. The Muir-Torre syndrome: a 25-year retrospect. J Am Acad Dermatol. Jul 1995;33(1):90-104. [Medline].

  26. Wick MR, Goellner JR, Wolfe JT 3rd, Su WP. Adnexal carcinomas of the skin. II. Extraocular sebaceous carcinomas. Cancer. Sep 1 1985;56(5):1163-72. [Medline].

 
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Sebaceous carcinoma of the upper eyelid. Courtesy of Mark S. Brown, MD, University of South Alabama Medical Center.
Sebaceous carcinoma as viewed from the conjunctival side. Courtesy of Mark S. Brown, MD, University of South Alabama Medical Center.
Gross image of an ear resection due to a deeply invasive sebaceous carcinoma
Histologic section of sebaceous adenoma showing a predominance of sebaceous cells with prominent cytoplasmic vacuoles.
Histologic section of sebaceous epithelioma showing a predominance of basaloid cells.
Well-differentiated sebocytes in small nests, deeply infiltrating the subcutaneous tissue, thus consistent with sebaceous carcinoma
Low-power view of a keratoacanthomalike sebaceous adenoma. Well-circumscribed, symmetrical lesion with overlying papillomatosis and prominent hyperkeratosis and showing focal sebaceous differentiation (arrows).
Sebaceous carcinoma typically infiltrates the overlying epithelium in a manner similar to Paget disease. Note in this case how the atypical cells have mostly replaced the normal follicular cells and involve the overlying epidermis.
Normal pattern of expression of MSH-2 (nuclear positivity) in a sebaceous carcinoma from a patient with Muir-Torre syndrome (see also MSH-6).
Significant loss of MSH-6 expression in this sebaceous carcinoma in a patient with Muir-Torre syndrome.
 
 
 
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