Other Names for this Disease
- Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
- Familial keratoacanthoma
- Hereditary keratoacanthoma
- Multiple keratoacanthoma
Your QuestionI have a patient with Muir-Torre syndrome. Can you provide me with information related to this condition?
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Questions on this page
- What is Muir-Torre syndrome?
- What are the common findings among patients with Muir-Torre syndrome?
- What causes Muir-Torre syndrome?
- How is Muir-Torre syndrome diagnosed?
- How is Muir-Torre syndrome inherited?
- What types of evaluations are recommended for individuals at-risk for Muir-Torre syndrome?
- What is the prognosis for individuals who have been diagnosed with Muir-Torre syndrome?
The most common visceral neoplasm in Muir-Torre syndrome is colorectal cancer, occurring in almost one half of patients. The second most common site is the genitourinary tract, representing approximately one quarter of visceral cancers. A wide variety of other cancers, including breast cancer, lymphoma and rarely leukemia, salivary gland tumors, lower and upper respiratory tract tumors, and chondrosarcoma, are reported. Intestinal polyps occur in at least one quarter of patients. Other benign tumors described in Muir-Torre syndrome include ovarian granulosa cell tumor, hepatic angioma, benign schwannoma of the small bowel, and uterine leiomyomas.
Clinically, a diagnosis of Muir-Torre syndrome is made by the presence of at least one sebaceous gland tumor (adenoma, epithelioma, carcinoma, cystic sebaceous tumor, or keratoacanthoma with sebaceous differentiation) associated with at least one primary visceral malignancy. Alternatively, diagnosis of Muir-Torre syndrome can be made if the patient has multiple keratoacanthomas with multiple internal malignancies and a family history of Muir-Torre syndrome.
Muir-Torre syndrome can also be recognized by genetic testing. A high proportion of both benign and malignant skin tumors (as well as internal malignancies) from Muir-Torre syndrome patients show microsatellite instability (MSI) due to germline mutations in either of two DNA mismatch repair (MMR) proteins, MSH2 or MLH1.
The following laboratory tests can be of diagnostic value if patients present with cutaneous signs of Muir-Torre syndrome:
- Sigmoidoscopy may be performed for screening of colonic polyposis and colonic carcinoma.
- Endoscopy may be performed to check for an occult gastric carcinoma.
- Serum carcinoembryonic antigen values are frequently increased in patients with colonic carcinomas.
- A complete blood cell count assists in detecting hematologic malignancies.
- A bone marrow examination may be needed to further delineate a hematologic malignancy.
- Laryngoscopy with biopsy examination of any suspicious lesions can rule out an occult laryngeal carcinoma.
- Abdominal CT scanning and MRI assist in detecting an occult internal malignancy, such as kidney and urothelial cancers, in patients with Muir-Torre syndrome.
- A biopsy of skin tumors performed for histopathologic examination provides an accurate diagnosis of sebaceous neoplasms, including sebaceous adenomas.
- Histopathologic examination of specimens obtained from polypectomy (removal of individual polyps) and laryngoscopy of patients with suspected Muir-Torre syndrome confirms the presence or the absence of occult internal malignancy.
- Peripheral blood smear, bone marrow examination, and lymph node biopsy may assist in detecting an associated hematologic malignancy in these patients.
- Ponti G, Ponz de Leon M. Muir-Torre syndrome. Lancet Oncol. 2005; http://www.ncbi.nlm.nih.gov/pubmed?term=16321766. Accessed 6/2/2011.
- Abeloff. Chapter 70. Clinical Oncology, 3rd edition. Churchill Livingstone; 2004;
- Kohlmann W, Gruber SB. Hereditary Non-Polyposis Colon Cancer. GeneReviews. November 29, 2006; http://www.ncbi.nlm.nih.gov/books/NBK1211/. Accessed 6/2/2011.
- Prieto VG. Muir-Torre syndrome. eMedicine. January 29, 2010; http://emedicine.medscape.com/article/1093640-overview. Accessed 6/2/2011.
- Fiorentino DF, Nguyen JC, Egbert BM, Swetter SM. Muir-Torre syndrome: confirmation of diagnosis by immunohistochemical analysis of cutaneous lesions. J Am Acad Dermatol. 2004; http://www.ncbi.nlm.nih.gov/pubmed?term=14988697. Accessed 6/2/2011.
- Font RL, Rishi K. Sebaceous gland adenoma of the tarsal conjunctiva in a patient with Muir-Torre syndrome. Ophthalmology. 2003; http://www.ncbi.nlm.nih.gov/pubmed?term=13129885. Accessed 6/3/2011.