Torre syndrome
Torre syndrome, also known as Muir-Torre syndrome (MTS), is a rare genetic disorder characterized by the co-occurrence of sebaceous gland neoplasms and/or keratoacanthomas and internal malignancies. It is a subtype of Lynch syndrome, a hereditary nonpolyposis colorectal cancer syndrome.
Etiology[edit | edit source]
Torre syndrome is caused by mutations in the same DNA mismatch repair genes that cause Lynch syndrome, namely MLH1, MSH2, MSH6, and PMS2. These genes are responsible for correcting errors that occur during DNA replication. Mutations in these genes lead to an increased risk of developing certain types of cancer.
Clinical Features[edit | edit source]
The most common clinical feature of Torre syndrome is the presence of sebaceous neoplasms, which are benign tumors of the sebaceous glands. These can occur anywhere on the body but are most commonly found on the face. Keratoacanthomas, rapidly growing, benign skin tumors, are also commonly seen in individuals with Torre syndrome.
In addition to skin manifestations, individuals with Torre syndrome are at an increased risk of developing internal malignancies. The most common of these are colorectal cancer and endometrial cancer, but other cancers such as stomach, ovary, small intestine, hepatobiliary tract, kidney, brain, and upper urinary tract cancers have also been reported.
Diagnosis[edit | edit source]
Diagnosis of Torre syndrome is based on clinical criteria, which include the presence of one or more sebaceous neoplasms or keratoacanthomas and at least one internal malignancy. Genetic testing can confirm the diagnosis by identifying mutations in the MLH1, MSH2, MSH6, or PMS2 genes.
Treatment[edit | edit source]
Treatment for Torre syndrome is primarily focused on managing the individual's risk of developing cancer. This may include regular cancer screenings, prophylactic surgeries, and lifestyle modifications. Skin lesions are typically removed surgically.
Prognosis[edit | edit source]
The prognosis for individuals with Torre syndrome largely depends on the type and stage of any internal malignancies. With early detection and appropriate treatment, the prognosis can be quite good.
See Also[edit | edit source]
Dermatology and Rheumatologic diseases A - Z
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