RAPIDLY FATAL FAMILIAL HISTIOCYTOSIS ASSOCIATED WITH EOSINOPHILIA AND PRIMARY IMMUNOLOGICAL DEFICIENCY

Abstract

Two new cases are reported of a familial disease clinically characterised by onset within the first month of life of an erythematous, maculopapular skin eruption associated with hepatomegaly, lymphadenopathy, eosinophilia, hypoglobulinæmia, or agammaglobulinæmia, increased susceptibility to infections, diarrhœa, and a rapidly fatal course. Histopathological findings, not previously described, included a profound depletion or absence of lymphocytes in the thymus, lymph-nodes, spleen, and lamina propria of the gut and an absence of Hassall's corpuscles in the thymus. An abnormal myeloid/erythroid ratio in the bone-marrow and blood, with a preponderance of eosinophilic granulocytes and their precursors, and a diffuse proliferation of bizarre histiocytes in the bone-marrow, lymphnodes, and skin were also noted. Possibly these signs and symptoms represent either a variant of the Letterer-Siwe syndrome or a graft-versus-host reaction in infants with severe combined immunological deficiency, but the unusual clinical and pathological findings suggest that this is a distinct disease. If this were correct, the disease might aptly be called familial malignant histiocytosis with eosinophilia.