Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy.
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.
Bañuls
José
J
Department of Dermatology, Alicante General Hospital, Maestro Alonso 109, Alicante 03010, Spain.
Botella
Rafael
R
Palau
Francesc
F
Ramón
Regina
R
Díaz
Carmina
C
Payá
Artemio
A
Carnero
Lucía
L
Vergara
Gloria
G
D000328:Adult; D002280:Basal Cell Carcinoma / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005143:Eyelids; D005145:Face; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000150:complications / Q000235:genetics*; D016609:Neoplasms, Second Primary / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013909:Thorax; D019680:Trinucleotide Repeat Expansion
D011494:Protein Kinases