Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy.

Bañuls, José; Botella, Rafael; Palau, Francesc; Ramón, Regina; Díaz, Carmina; Payá, Artemio; Carnero, Lucía; Vergara, Gloria · J Am Acad Dermatol · 2004

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.

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