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Muir-Torre syndrome - Skin
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Muir-Torre syndrome - Skin

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Contributors: Misha Miller MD, Whitney A. High MD, JD, MEng, Jeffrey D. Bernhard MD, Noah Craft MD, PhD, Lindy P. Fox MD, Lowell A. Goldsmith MD, MPH, Michael D. Tharp MD
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Synopsis

Muir-Torre syndrome (MTS) is a subtype of hereditary non-polyposis colorectal cancer syndrome (HNPCC). It is an inherited deficiency in genetic repair mechanisms, including the mismatch repair function, which results in a constellation of distinct cutaneous findings and visceral malignancy. Classically, MTS combines at least one sebaceous neoplasm (a sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma) and at least one visceral malignancy (usually gastrointestinal or genitourinary carcinomas). Keratoacanthomas are also commonly seen in patients with MTS.

MTS follows an autosomal dominant pattern of inheritance in the majority of cases. It also has a high degree of penetrance, but variable expression. MTS occurs in both sexes, but in the literature, there is a male-to-female ratio of about 3:2. Patients may present at any age, from childhood to old age, but most patients with MTS are discovered in middle age, with a median age of about 50 years.

Diagnostic criteria (Amsterdam criteria) for MTS include the following:
  • Three or more relatives with an HNPCC-associated cancer (colorectal, endometrial, or genitourinary carcinoma).
  • Cancer affecting at least 2 successive generations.
  • One person with cancer is a first-degree relative of the other 2, at least 1 case of colorectal cancer occurred at an age younger than 50 years, a diagnosis of familial adenomatous polyposis is excluded, and tumors are verified by histopathological examination.
For more information, see OMIM.

Codes

ICD10CM:
C18.9 – Malignant neoplasm of colon, unspecified

SNOMEDCT:
403824007 – Muir-Torré syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Certainly sebaceous neoplasms can occur in isolation unrelated to any genetic syndrome, and the same holds true for keratoacanthomas.

Gardner syndrome is an autosomal dominant form of familial adenomatous polyposis (FAP) that presents with polyposis of the colon, an increased risk of colorectal malignancy, osteomas, and other cutaneous manifestations such as epidermoid cysts. It does not involve specifically sebaceous neoplasms as does MTS.

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Last Updated: 03/29/2017
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Muir-Torre syndrome - Skin
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Muir-Torre syndrome : Face, Smooth papules, Arms, Legs
Clinical image of Muir-Torre syndrome
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