A familial syndrome with von Recklinghausen's neurofibromatosis, gammopathy and aorta outflow obstruction.

Three cases of von Recklinghausen's disease have been observed in the same family comprising four members. Two of the patients, father and son, had aorta outflow obstruction and biclonal gammopathy (IgG(kappa/lambda) and IgA(kappa)/IgG(kappa)). In one of these patients, no concanavalin suppressor cell activity was demonstrated, indicating that the gammopathy may be related to suppressor T-cell deficiency. Further study of the other family lineages showed that aorta stenosis/mors subita occurred frequently, but genetic marker studies failed to reveal any linkage between these entities. The syndrome, which has not been reported previously, was probably restricted to the first kindred studied. Detailed biochemical and immunological studies of the monoclonal components involved are in progress.