Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy.
case_report · Level V
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Abstract
We describe the third case (to our knowledge) of multiple basal cell carcinoma associated with myotonic dystrophy and carry out a genetic study of the tumor comparing it with healthy skin. We consider that our results show that this association might be not a purely random phenomenon and that the particular genetic characteristics of this disorder might have a role in the pathogenesis of the tumor.
Medical subject headings
- Basal Cell Carcinoma
- Mosaicism
- Myotonic Dystrophy
- Neoplasms, Second Primary
- Skin Neoplasms