Can some people have milder effects instead of GIST tumors?
Beside GISTs, other, milder features have also been reported in some families with germ-line mutations in the c-kit gene. These have primarily included: (a) Skin findings, including pigmented or colored spots, areas of loss of coloration (“vitiligo”), multiple moles (“nevi”) and even melanoma (a skin cancer of the pigment cells), discoloration around the fingernails, and a group of conditions known as “mastocytosis” or “mast cell disease” (b) Swallowing disorders that are not related to the GISTs themselves (also called “dysphasia” (difficulty swallowing) or “achalasia” (a specific disorder in which the esophagus doesn’t help to propel food to the stomach effectively) There have also been multiple families reported with GIST and an inherited condition known as “neurofibromatosis type 1” (abbreviated NF1). NF1 is characterized by the development of multiple café-au-lait spots and neurofibromas (benign growths) on the skin, as well as a distinctive pattern of freckling along the armpit a
