Multiple Basal Cell Carcinomas in a Patient with Myotonic Dystrophy Type 1

    March 2019 in “ Case Reports ”
    Jessica Feng, Avery LaChance, David A. Sinclair, Maryam M. Asgari
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    TLDR A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
    In 2019, a case study was conducted on a man in his 60s with myotonic dystrophy type 1 (DM1) who had 28 primary basal cell carcinomas (BCC) and four squamous cell carcinomas. Genetic testing ruled out known hereditary BCC-associated syndromes. The study suggested a link between DM1 and BCC, possibly due to the mutated DMPK gene in DM1 patients interfering with protein production, DNA repair, and cell death. This was the ninth reported case of DM1 associated with multiple, early-onset BCCs. The study emphasized the need for sun protection and skin cancer surveillance in DM1 patients, and the involvement of dermatologists in their care.
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