Familial Osseous Atrophy

The object of this report is to introduce into the radiological literature familial osseous atrophy. The condition was first described by Smith (1), in 1934; its etiology is still unknown. Our patient, a white male, age 25, was seen at the University Hospital on July 18, 1941, complaining of chronic ulcers on the plantar surfaces of both feet. Three years before, thick callus had appeared under the heads of the first and second left metatarsals, associated with moderately severe aching pain following long periods of standing. Similar changes developed on the right foot shortly afterward. When the callus had been present several months, it blistered and sloughed, leaving large ulcers (Fig. 1). These healed when the patient stayed off his feet, but recurred when he got up again. On several occasions, bits of bone were extruded from the ulcer craters. On investigation of the family history, it was found that the patient's paternal grandfather had suffered from the same condition, beginning in his early twenties (see Family Tree). He had had recurrent ulcers with sloughing of small pieces of bone until the feet were practically gone. He died in his sixties. The father is similarly affected (Fig. 2) and, like the grandfather, has been reduced to crawling on hands and knees. At no time was any other portion of the body involved. Two uncles are affected (Fig. 3), but the patient is the only grandchild suffering from the disease. On examination of the patient, both feet were found to be cold and clammy. The distal two-thirds were moderately swollen, tender, and livid. There was a draining crusted ulcer under the interspace between the distal ends of the first and second metatarsal bones, bilaterally. Neurological examination revealed a loss of heat and cold sensation over the toes and hyperactive reflexes of the lower extremities. The pulsations of the dorsalis pedis and posterior tibial arteries were full and strong. There was a moderate bilateral inguinal lymphadenopathy. The remainder of the examination was essentially negative. The temperature, orally, was 99.2° and the pulse 88. An inguinal node was removed for biopsy and the report was “chronic lymphadenitis.” The patient signed out of the hospital against advice twenty days following admission, with the ulcers partially healed. Four years later, Dec. 10, 1945, he was readmitted for further study. In the interval he had had recurrent ulcers on the plantar surfaces of both feet, with moderate pain, swelling, and increasing difficulty in walking. The ulcers were larger and the feet were markedly shortened (Fig. 4). Tissue taken from the margins of the ulcers and a small piece of bone removed for biopsy were reported as showing chronic inflammatory changes in the soft tissues and atrophy of the bone. Radiological examination at the time of the first admission revealed necrosis of the distal 4 cm. of the right first metatarsal bone (Fig. 6).