The risk factors of Muir-Torre Syndrome include:
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
Muir-Torre Syndrome is a genetic disorder caused by DNA mismatch repair defect.
Note: It is important to note that the presence of DNA mismatch repair genes mutation does not mean that individual will get colon cancer. It only indicates a higher predisposition to develop colon cancers.
Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.
The typical feature of Muir-Torre Syndrome is tumors of the sebaceous glands of the skin and internal malignancy (affecting any organ). In addition to sebaceous tumors, the syndrome can also have colon cancers, ovarian cancers, liver cancers, endometrial cancers, Hodgkin lymphoma, keratoacanthomas of skin, and genitourinary cancers.
The signs and symptoms of Muir-Torre Syndrome may include:
Keratoacanthomas are tumors of the skin that are tan-colored or reddish in color; they occur as firm nodules.
The detection rate for mismatch repair gene mutations is less than 100%. Hence, a diagnosis of Muir-Torre Syndrome is made on clinical examination, family history, genetic testing, and immunohistochemical studies of sebaceous tumors of skin. The diagnostic tools may include:
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
The complications of Muir-Torre Syndrome may include:
Muir-Torre Syndrome is a genetic disorder and there is no cure for the condition. Efforts may be taken to decrease the complication due the genetic defects.
Like Gardner syndrome and Peutz-Jeghers syndrome, Muir-Torre Syndrome is an example of skin-polyposis syndromes.
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