Article ID Journal Published Year Pages File Type
9102663 Endocrinología y Nutrición 2005 4 Pages PDF
Abstract
Multiple endocrine neoplasia (MEN) syndrome is an autosomal dominantly inherited disease characterized by the development of endocrine tumors. The most common component of MEN 2 is medullary thyroid carcinoma. This syndrome is associated with protooncogene RET (chromosome 10) mutation. Genetic screening of members of patients' families is cruzial due to its potential severity. We describe a patient with NEM 2B syndrome who presented with a thyroid tumor and morphological changes in his lips. We highlight the importance of clinical suspicion for correct diagnosis and appropriate treatment.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Clinical Biochemistry
Authors
, , , , , ,