FAMILIAL MASTOCYTOSIS - A CLINICAL, IMMUNOPHENOTYPIC, LIGHT AND ELECTRON-MICROSCOPIC STUDY

A women and her daughter both developed diffuse cutaneous mastocytosis in early infancy. The immunophenotypes of the cutaneous mast cells in the two cases were shown to be identical: leucocyte common antigen (CD45) and macrophage/monocyte marker EBM11 were both strongly positive, HLA-DR was positive and CD25 was weakly positive. The peripheral lymphocytes of the patients were analysed by flow cytometry and this revealed that there was no increase in the activation markers HLA-DR and CD25, contrary to recent claims that lymphocytes have a contributory role in driving mast-cell proliferation. Mast-cell granules in both cases were found on electron microscopy to have an abnormal ultrastructure. The close similarity between the two cases at clinical, immunophenotypic and ultrastructural levels strongly suggests that genetic factors are important in the development of this type of mastocytosis.