Gorham's Disease - History

History

The first known report of the condition came in 1838 in an article titled “A Boneless Arm” in what was then The Boston Medical and Surgical Journal (now The New England Journal of Medicine). It is a brief report chronicling the case of Mr. Brown who had, in 1819 at age 18 years, broken his right upper arm in an accident. The patient suffered two subsequent accidents, which fractured the arm twice more “before the curative process had been completed.” At the time of the report in 1838 the patient was reported as having remarkable use of the arm, in spite of the humerus bone having apparently disappeared – x-rays did not yet exist. Thirty-four years later, in 1872, a follow-up report was published in the same journal, following Mr. Brown’s death from pneumonia at the age of 70 years. The patient had requested the arm “be dissected and preserved for the benefit of medical science” and this report contains a detailed pathological description of the arm and shoulder. Abnormalities of the remaining bones of the arm and shoulder are noted and the authors report that the arteries, veins, and nerves appeared normal. There is no mention of lymphatic vessels. Though several reports of similar cases were published in the interim, more than 80 years would pass before another significant report of the condition appeared in the medical literature.

Both born in 1885, Lemuel Whittington Gorham, MD, and Arthur Purdy Stout, MD, had long, distinguished careers in medicine and shared a lifelong interest in pathology. Dr. Gorham practiced and taught medicine and oncology and from the mid-1950’s through the early 1960’s conducted and reported the classical clinicopathological investigations of pulmonary embolism. During this time period he also authored several case series on osteolysis of bone. Dr. Stout began his career as a surgeon and became a pioneer in tumor pathology, publishing Human Cancer in 1932. This work became the model for the Atlas of Tumor Pathology project, which Stout oversaw as Chairman of the National Research Council in the 1950s. In his later years, Dr. Stout embarked on a systematic study of soft tissue tumors in children and was among the first to link cigarette smoking to lung cancer.

In 1954 Gorham and three others published a two case series, with a brief review of 16 similar cases from the medical literature, that advanced the hypothesis that angiomatosis was responsible for this unusual form of massive osteolysis. That same year Gorham and Stout presented to the American Association of Physicians their paper (in abstract form), “Massive Osteolysis (Acute Spontaneous Absorption of Bone, Phantom Bone, Disappearing Bone): Its Relation to Hemangiomatosis.” The paper was published in its entirety in October 1955 in The Journal of Bone and Joint Surgery, concluding that:

1. There now exists the basis for a new syndrome which is supported by a remarkable similarity of clinical and findings in twenty-four cases, and by an equally convincing similarity of the histological picture in eight of these, which we have personally studied.
2. However it is accomplished, the progressive osteolysis is always associated with an angiomatosis of blood and sometimes of lymphatic vessels, which seemingly are responsible for it.

The most typical presentation is that of osteolysis of a single bone or the bones connected by a shared joint, such as the shoulder. Although the disease can attack any bone, the shoulder is one of the most commonly involved areas, along with the skull and pelvic girdle. Spontaneous fractures are common and may be the first sign of the disease. A hallmark of the disease is the lack of bone healing following fracture.