Features include: Hypermelanotic macule, Urticaria, Edema, and Telangiectasia macularis eruptiva perstans and 2 more.

KIT encodes KIT proto-oncogene, receptor tyrosine kinase (976 aa). Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. Highest expression in Esophagus Muscularis (44.5 TPM) and Ovary (36.4 TPM).

Cutaneous mastocytosis is associated with mutations in the KIT gene on chromosome 4.

The KIT protein participates in KIT V559_V560del, KIT K550_K558del, and KIT P551_V555del pathways.

KIT is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, External Side Of Plasma Membrane, Kinase, Transcription Factor, and Tyrosine Kinase categories) with score 2.1.

Genetic testing for KIT is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cutaneous mastocytosis has been reported in the published literature.

Estimated prevalence: Unknown (Unknown prevalence).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

114 publications have been identified in PubMed for cutaneous mastocytosis. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (19%), and Epidemiology / Natural History (16%).