A RARE FAMILIAL SYSTEMIC AFFECTION OF THE SKELETON: FAIRBANK'S DISEASE.

Abstract

The case to be presented in this paper belongs to a large group of sclerotic affections involving the skeletal system. Many articles clearly defining these various entities have been written since the early days of radiology, though little has actually been added to their descriptions in that time. Some of these abnormalities are seen not uncommonly in the general practice of radiology, while others are represented by only single case reports. The present report includes information covering four generations. The patient's father suffered the same disease process and a chest film demonstrated the same findings; he died of severe aortic valvular stenosis. The disease process is also well documented in the patient's grandfather, though films were unavailable for demonstration purposes. A child six years of age has been studied, but without evidence of skeletal abnormality. The case presented falls into a group of skeletal affections described in 1943 by Uehlinger (3), whose name they now bear. They are known also as hyperostosis generalisata with pachyderma, acromeg-aloid osteosis, familial acromegaloid disease of the skeleton, osteodermopathic hypertrophiante, idiopathic familial generalized osteophytosis, chronic idiopathic hypertrophic osteoarthropathy, and meg-alia ossium cutis (2). Uehlinger's disease usually starts during puberty and is progressive until death. The patients are grotesque in appearance and because of their skin involvement appear acromegalic. None, however, have been found to have pituitary tumors. The bony changes as described by Uehlinger are very similar to changes demonstrated in the case to be reported here. So far as we know the only similar case in the literature is described by Sir Thomas Fair-bank in his book An Atlas of General Affections of the Skeleton (1). This case was called hyperostosis generalisata with striations, or “Fairbank's disease.” We shall use the same terminology in our report. Along with the two cases in the patient's family, one documented by a chest film and one with no films, this makes a total of 3 new cases. The radiographic picture and pathology of Fairbank's disease and Uehlinger's disease are almost identical, with the exception of striae and skin changes. The bone lesions are assumed to be the same. The long bones in Fairbank's disease demonstrate marked widening and increased sclerosis of the diaphyses. Multiple heavy trabeculae traverse the areas of stress, being more pronounced in the diaphyses. The medullary cavity is obliterated by the marked overgrowth of bone. A sclerotic thick cortex involves the long bones in their entirety, including the epiphyses. New bone is deposited subperiosteally, replacing the original compact cortical bone, and heavy trabeculae are formed. The ribs, clavicles, and pelvis are involved and are very sclerotic.