Skin Features in Myotonic Dystrophy Type 1: An Observational Study

    May 2015 in “ Neuromuscular Disorders
    Anna Campanati, Melania Giannoni, Laura Buratti, Claudia Cagnetti, Katia Giuliodori, Giulia Ganzetti, Mauro Silvestrini, Leandro Provinciali, Annamaria Offidani
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    TLDR People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
    In 2015, researchers conducted an observational study on 55 adult patients with Myotonic Dystrophy type 1 (DM1) and compared them to 100 healthy controls, finding that DM1 patients did not have an increased prevalence of pre-neoplastic and neoplastic skin lesions but did show a higher prevalence of certain skin conditions such as focal hyperhidrosis, follicular hyperkeratosis, early androgenic alopecia, nail pitting, pedunculus fibromas, twisted hair, seborrheic dermatitis, and macules of hyperpigmentation. Male DM1 patients specifically had a higher prevalence of early androgenic alopecia, twisted hair, and seborrheic dermatitis. The study concluded that DM1 patients are more likely to have specific skin and appendage disorders, but these conditions do not correlate with the severity of DM1 or the size of the CTG repeat expansion. The findings suggest that while DM1 does not increase the risk of skin cancer, it is associated with certain dermatological manifestations that clinicians should be aware of, although the exact role of the DMPK gene in these manifestations needs further study.
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