Sebaceous Neoplasms – Muir Torre Syndrome

Muir Torre Syndrome is a genetic condition in which patients have a DNA mutation in the mismatch repair genes MLH-1 and MSH-2 resulting in a predilection for the development of Sebaceomas, Sebaceous Adenomas, Sebaceous Carcinomas and Keratoacanthomas as well as underlying internal malignancies such as colon cancer and genitourinary cancer and I occasionally encounter this condition in both my The Woodlands dermatology and Conroe dermatology clinics.  Muir Torre Syndrome can be detected on skin biopsy of a Sebaceous Neoplasm or Keratoacanthoma by staining for MLH-1 and MSH-2 microsatellite instability.  The internal malignancies associated with Muir Torre Syndrome usually begin 10 to 20 years prior to the detection of the associated skin lesions but the internal malignancy may temporally coincide with the cutaneous findings.  Patients diagnosed with Muir Torre Syndrome need yearly colonoscopies and urine cytology beginning at age 25.  It is recommended that patients with Muir Torre Syndrome refer their first degree relatives for genetic screening.