Causes
A rare genetic condition known as Muir-Torre syndrome belongs to the Lynch syndrome family (hereditary nonpolyposis colorectal cancer). In addition to sebaceous skin tumors, it is characterized by colorectal cancers and internal malignancies. A mutation in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2), responsible for correcting errors in DNA replication, is usually responsible for Muir-Torre syndrome inheritance.
Symptoms
Symptoms of Muir-Torre syndrome can include:
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Yellowish nodules or plaques on the face, neck, or trunk may be Sebaceous Adenomas or Carcinomas.
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Malignancies of the internal organs: Most commonly colorectal cancer, but also endometrial, ovarian, gastric, and urothelial cancers.
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The presence of similar skin tumors or cancers in family members may indicate a genetic predisposition.
Diagnosis
The Muir-Torre syndrome is diagnosed by:
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Examination of skin lesions and detection of suspicious skin tumors.
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In order to confirm the presence of sebaceous adenomas or carcinomas, histopathological examination is performed on skin lesions.
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Mutations in DNA mismatch repair genes are identified to confirm the syndrome and assess familial risk.
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Colonoscopy, endoscopy, or imaging studies are used to detect early signs of internal cancers.
Treatment
Muir-Torre syndrome may be managed in the following ways:
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Excision of sebaceous skin tumors to prevent recurrence or malignancy.
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An internal malignancy can be treated with surgery, chemotherapy, or radiation therapy, depending on its type and stage.
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The purpose of genetic counseling is to inform affected individuals and their families about the genetic basis of the syndrome, the risk of cancers, and the options for screening and prevention.
Prevention
Muir-Torre syndrome can be prevented by:
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Screening for early detection of colorectal cancer and other associated malignancies according to individual and familial risk factors.
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To reduce the risk of cancer, adopt a healthy lifestyle that includes a healthy diet, regular exercise, and avoidance of tobacco and excessive alcohol consumption.
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Muir-Torre Syndrome Genetic Counseling: Information and support for families concerning the inheritance pattern of Muir-Torre syndrome, genetic testing, and family planning.
Conclusion
As well as having sebaceous skin tumors, Muir-Torre syndrome increases the risk of various internal malignancies, including colorectal cancer. Mutations in DNA mismatch repair genes cause it and it is inherited autosomally. To intervene and monitor associated cancers in a timely manner, early diagnosis through clinical evaluation, histopathological examination of skin lesions, and genetic testing is essential. As part of management, skin tumors are surgically removed, internal malignancies are treated, and early cancer detection is monitored regularly. To optimize health outcomes, genetic counseling provides information and support to individuals and their families regarding the genetic basis of the syndrome, risk assessment, and prevention strategies.
