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

J Am Acad Dermatol. 2004 Feb;50(2 Suppl):S1-3. doi: 10.1016/s0190-9622(03)00125-7.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Protein Kinases