Conflict of interest: none declared.
Clinical dermatology ● Concise report
A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family
Article first published online: 2 DEC 2013
© 2013 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 39, Issue 2, pages 146–149, March 2014
How to Cite
Wang, H. J., Lin, Z. M., Zhang, J., Yin, J. H. and Yang, Y. (2014), A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. Clinical and Experimental Dermatology, 39: 146–149. doi: 10.1111/ced.12225
- Issue published online: 13 FEB 2014
- Article first published online: 2 DEC 2013
- Manuscript Accepted: 11 JUN 2013
- National Natural Science Foundation of China. Grant Numbers: 81071289, 81201220
Diffuse cutaneous mastocytosis (DCM) is an extremely rare disease characterized by massive proliferation of mast cells infiltrating the entire skin. We report a Chinese family with indolent DCM, and detection of a new germline KIT mutation located in the fifth immunoglobulin-like loop of the KIT protein, which probably results in a gain-of-function effect and consequent overactivation of mast cells. Our report expands the knowledge of correlations between the genotype of KIT mutations and the phenotype of DCM.