Dysplastic Nevi, Cutaneous Melanoma, and Other Skin Neoplasms in Patients with Myotonic Dystrophy Type 1: A Cross-Sectional Study

January 2015 in “ Journal of The American Academy of Dermatology ”

Anna Zampetti, Gabriella Silvestri, S. Manco, Katy Khamis, Marcella Masciullo, Marco Bianchi, Antonello Damiani, Massimo Santoro, Dennis Linder, Anthony Bewley, Claudio Feliciani

dysplastic nevi cutaneous melanoma skin neoplasms myotonic dystrophy type 1 nevi melanomas pilomatrixoma vitamin D genetic factors

TLDR People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.

In a cross-sectional study with 90 patients with myotonic dystrophy type 1 (MD1) and 103 control subjects, it was found that individuals with MD1 had a significantly higher incidence of nevi, dysplastic nevi, and melanomas, despite the control group having more reported sunburns. The study also noted a higher occurrence of pilomatrixoma in MD1 patients. These findings suggest that MD1 may predispose individuals to skin tumors, and the authors recommend dermatological assessments for MD1 patients due to their increased risk. The study called for further research to understand the mechanisms behind this increased risk, including the role of vitamin D and genetic factors. The study's limitations included the lack of a standardized method for assessing prior sun exposure.

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