Generational Expression of Muir-Torre Syndrome in a Canadian Family - Case Reports in Dermatological Medicine

open access

Case Reports in Dermatological Medicine
Case Report
Generational Expression of Muir-Torre Syndrome in a Canadian Family

 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....... 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.....

MTS is characterized by at least one cutaneous neoplasm and at least one visceral malignancy [1, 5, 6, 9–11]. Cutaneous neoplasms reported in MTS are of sebaceous etiology, nonspecific clinically, and rarely seen in the general population. Visceral malignancies commonly reported in MTS are of gastrointestinal and genitourinary etiology [3, 5, 7, 12]. MTS is a rare condition with only several hundred cases reported to date [13–15]. The majority of MTS cases are associated with mutations of HMSH2 [5, 15]. We present a case that exemplifies the varied heritability of MTS (in terms of severity and age of onset) in succeeding generations as well as the importance of regular screening, vigilance, and the necessity of a multiprofessional approach for the effective detection and management of this rare and likely underreported condition.