Generational Expression of Muir-Torre Syndrome in a Canadian Family

Abstract EN

Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome.

We describe the clinical course of a 57-year-old female patient with MTS.

She has a confirmed HMSH2 mutation.

Recently she presented with two nodular lesions.

Histologic examination confirmed these lesions to be sebaceous neoplasms.

The patient has a history of endometrial and colorectal adenocarcinoma as well as several nonspecific sebaceous lesions throughout her life.

She has a confirmed extensive family history of MTS with both male and female family members harbouring either HMLH1 or HSMH2 mutations.

Affected relatives have presented at different ages throughout their lives with cutaneous neoplasms and visceral malignancies, including malignancies rarely associated with MTS.

MTS presents a diagnostic challenge for clinicians.

The case demonstrates that the management of MTS, a potentially underreported syndrome, requires a multiprofessional approach incorporating vigilance, screening, and expert knowledge for successful diagnosis and potentially improved prognosis for patients and their families.

The case also demonstrates the varied heritability of MTS and prompts the question of how MTS is expressed in succeeding generations.