Wat Zijn de Huidziekten Geassocieerd met Muir-Torre Syndroom?

References

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Muir-Torre Syndrome

Muir-Torre syndrome is a rare, autosomal dominant genodermatosis characterized by the presence of at least one sebaceous gland neoplasm, associated with an underlying visceral malignancy. Muir-Torre syndrome is believed to be a subtype of Lynch Syndrome. Affected individuals are found to have germline mutations predominantly in DNA mismatch repair gene MSH2, and much less frequently, MLH1. The authors report the case of a 55-year-old woman presenting with multiple cutaneous neoplasms including sebaceoma, basal cell carcinoma, and squamous cell carcinoma, personal history of colorectal and endometrial cancer, and family history of colorectal cancer, found to have a deletion at mismatch repair gene MLH1. It is important to recognize the role of these less common gene deletions in producing the Muir-Torre syndrome phenotype, and consider the correlation of cutaneous manifestations with internal disease. The authors discuss the clinical presentation of Muir-Torre syndrome, methods of diagnosis, and the importance of regular medical surveillance to detect and prevent disease progression in Muir-Torre syndrome patients and their family members.

Physical examination revealed a well-developed female in no apparent distress. Her face featured a 4mm non-tender, pearly papule on the right nasal tip along with multiple, scattered, 0.2 to 0.4cm, yellow, lobulated papules, most dense throughout the nose and bilateral cheeks. Chest was without evidence of recurrence or suspicious lesions. The back and extremities demonstrated multiple, scattered, brown, waxy papules and plaques, as well as uniform brown macules consistent with seborrheic keratoses and solar lentigos. At the time of examination, a 3mm shave biopsy was obtained of the lesion at the right nasal tip, which was suspicious for malignancy.

Review Questions

Coquillard C, Boustany A, DeCoster RC, Vasconez HC. Muir-Torre Syndrome Presenting as a Sebaceous Carcinoma of the Nasal Ala. Am Surg. 2019 Mar 01, 85 (3):e115-e117. [PMC free article : PMC6486836 ] [PubMed : 30947781 ]

Task Force/Committee Members. Vidal CI, Sutton A, Armbrect EA, Lee JB, Litzner BR, Hurley MY, Rating Panel. Alam M, Duncan LM, Elston DM, Emanuel PO, Ferringer T, Fung MA, Hosler GA, Lazar AJ, Lowe L, Plaza JA, Robinson JK, Schaffer A. Muir-Torre syndrome appropriate use criteria: Effect of patient age on appropriate use scores. J Cutan Pathol. 2019 Jul, 46 (7):484-489. [PubMed : 30895633 ]

McCarthy RL, Thomas CL, Isaacs F. Multiple benign adnexal tumours: Anything but benign. Australas J Dermatol. 2019 Aug, 60 (3):234-236. [PubMed : 30671930 ]

Schierbeck J, Vestergaard T, Bygum A. Skin Cancer Associated Genodermatoses: A Literature Review. Acta Derm Venereol. 2019 Apr 01, 99 (4):360-369. [PubMed : 30653245 ]

Wield A, Hodeib M, Khan M, Gubernick L, Li AJ, Kandukuri S. Sebaceous carcinoma arising within an ovarian mature cystic teratoma: A case report with discussion of clinical management and genetic evaluation. Gynecol Oncol Rep. 2018 Nov, 26 :37-40. [PMC free article : PMC6138851 ] [PubMed : 30225334 ]

Kudibal MT, Venzo A. [Muir-Torre syndrome]. Ugeskr Laeger. 2018 Jul 02, 180 (27) [PubMed : 29984696 ]

Torre K, Ricketts J, Dadras SS. Muir-Torre Syndrome: A Case Report in a Woman Without Personal Cancer History. Am J Dermatopathol. 2019 Jan, 41 (1):55-59. [PubMed : 29933315 ]

Brown S, Brennan P, Rajan N. Inherited skin tumour syndromes. Clin Med (Lond). 2017 Dec, 17 (6):562-567. [PMC free article : PMC6297702 ] [PubMed : 29196359 ]

Disclosure: John Gay declares no relevant financial relationships with ineligible companies.

Disclosure: Todd Troxell declares no relevant financial relationships with ineligible companies.

Disclosure: Gary Gross declares no relevant financial relationships with ineligible companies.

Patient Management

Patients should be evaluated by a dermatologist at least 2-3 times yearly. They need to practice sun protection, with monthly self-skin examinations.

Refereral to a physician specializing in genetics is important to screen children and to give patients advice.

Unusual Clinical Scenarios to Consider in Patient Management

Familial adenomatous polyposis (FAP) is quite closely related. It has an initial sign of congenital hypertrophy of the retinal pigment epithelium. FAP’s key characterization of pathology is early development of hundreds to thousands of tubular adenomas in the large intestine, and associated features include upper gastrointestinal polyps, extracolonic malignancies, and desmoid tumors.

Turcot Syndrome is characterized by multiple colorectal adenomatous polyps along with tumors in the brain (glioblastoma multiforme, medulloblastoma). In Turcot’s there are usually fewer than 100 intestinal polyps, and in addition, cafe-au-lait spots and basal cell carcinomas can be seen on the skin

Attenuated FAP is characterized by fewer than 100 adenomatous polyps in the colon. Patients may present with extracolonic features such as gastric polyps or mandibular osteomas. In attenuated FAP, the diagnosis is usually later in life (mean age of 44 years), the right side of the colon tends to be more involved, and the rectum is usually spared.