This KIT exon 11 germline alteration was initially detected in her nephew, after he presented with unusual progressive hyperpigmentation after his father (our patient’s brother) developed a gastrointestinal stromal tumors (GIST) in his 40s (Fig. 1).1 At the time of testing, examination showed only mild freckles on her arms, with no rashes and no gastrointestinal symptoms. Here, KIT is linked to gastrointestinal stromal tumor.