Painful Skin Tumors in Adults with NF1
April 18, 2014
Monique Kumar, MD, and colleagues recently reported on the occurrence of a painful skin tumor, called a glomus tumor, in people with NF1. In this report, published in the Journal of The Academy of Dermatology, they described the clinical and molecular features of glomus tumors in adults with NF1 compared to those occurring in the general population.
Glomus tumors are often found on the hand, and frequently go unrecognized. This delay in diagnosis likely reflects their small size, their rarity, and their varied presentations.
Dr. Kumar found that approximately 20% of individuals with glomus tumors also had a diagnosis of NF1. They also found that individuals with NF1 had higher frequency of multiple glomus tumors as well as tumor recurrence after removal. Finally, they demonstrated, for the first time, that the NF1 protein (neurofibromin) is expressed in sporadic glomus tumors, but not in those tumors from people with NF1.
Kumar MG, Emnett RJ, Bayliss SJ, Gutmann DH. Glomus tumors in individuals with neurofibromatosis type 1. Journal of The Academy of Dermatology (in press).Categories: