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Updated: Mar 7, 2026
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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
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Cutaneous Neoplasms in Myotonic Dystrophy Type 1
Joaquim Marcoval1, Montserrat Olivé, Montserrat Bonfill-Ortí
1Department of Dermatology, Hospital Universitari de Bellvitge, IDIBELL, University of Barcelona, Barcelona, Spain.
Dermatology (Basel, Switzerland)
|March 2, 2017
Summary
Patients with myotonic dystrophy type 1 (DM1) developed basal cell carcinoma at a younger age than the general population. This suggests DM1 may increase the risk of developing basal cell carcinoma in some individuals.
Area of Science:
- Dermatology
- Genetics
- Oncology
Background:
- Myotonic dystrophy type 1 (DM1) commonly presents with frontal alopecia and pilomatrixomas.
- Previous studies suggest an increased incidence of basal cell carcinoma in DM1 patients, but results are contradictory.
Purpose of the Study:
- To investigate the incidence of cutaneous tumors in patients diagnosed with myotonic dystrophy type 1 (DM1).
Main Methods:
- Retrospective analysis of clinical features in 102 Caucasian DM1 patients.
- Review of clinical charts for cutaneous tumors diagnosed at Bellvitge Hospital.
- Comparison with a control group of 103 age- and sex-matched Caucasian individuals.
Main Results:
- Basal cell carcinoma was diagnosed in 6 DM1 patients versus 3 controls (p=0.332).
- The mean age of first basal cell carcinoma diagnosis was significantly younger in DM1 patients (51 years) compared to controls (66 years) (p=0.035).
- Pilomatrixomas were observed in 5 DM1 patients, with none in the control group (p=0.029). No melanomas were detected in DM1 patients.
Conclusions:
- Basal cell carcinomas occurred at a significantly earlier age in DM1 patients.
- These findings suggest a potential predisposition to basal cell carcinoma development in some DM1 patients.
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