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

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.

• Authors: José Bañuls, Rafael Botella, Francesc Palau, Regina Ramón, Carmina Díaz, Artemio Payá, Lucía Carnero, Gloria Vergara
• Journal: Journal of the American Academy of Dermatology (J Am Acad Dermatol) Vol. 50 Issue 2 Suppl Pg. S1-3 (Feb 2004) ISSN: 0190-9622 [Print] United States
• PMID: 14726854 (Publication Type: Case Reports, Journal Article)

Chemical References

• Protein Kinases

Topics

• Adult
• Carcinoma, Basal Cell (complications, diagnosis, genetics)
• Diagnosis, Differential
• Eyelids
• Face
• Genetic Counseling
• Humans
• Male
• Mosaicism (genetics)
• Myotonic Dystrophy (complications, genetics)
• Neoplasms, Second Primary (complications, diagnosis, genetics)
• Protein Kinases (genetics)
• Skin Neoplasms (complications, diagnosis, genetics)
• Thorax
• Trinucleotide Repeat Expansion