FAMILIAL PANMYELOPHTHISIS : FANCONI SYNDROME IN ADULTS

An account is given of a similar and hitherto unknown clinical-hematologic syndrome in two adult brothers with marked hemorrhagic diathesis, diffuse pigmentation of the skin, violent pain in the bones and panhemocytopenia. In the younger brother, there is also a certain degree of infantilism. The elder brother died with all the symptoms of an intensive aplastic anemia; in the younger brother, the condition was stabilized after splenectomy. The blood picture in both patients was characterized by a hyperchromic anemia with remarkable micro- and macrocytosis, and an increased number of reticulocytes. In the younger brother, increased fragility of the red blood cells and an elevated serum iron content were observed. In both cases, an unusual increase of the plasmocytic and reticular cells and of the tissue mast cells was noticed in the bone marrow and, in the final stages of the disease, the marrow showed marked fibrosis.

The disease is believed to be a variety, in adults, of the syndrome first described by Fanconi as a constitutional panmyelopathy occurring in children. The illness is the result of a hereditary pathologic reaction of the reticulo-histiocytic system and seems to have been caused by an anaphylactic-allergic phenomenon. The possibility is discussed that genetic connections may exist between this condition and other diseases, such as certain osteoscleroses and Cooley’s anemia, which are characterized by simultaneous disturbances of the bone and bone marrow and by a similar blood morphology.