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At a glance

Rare syndrome affecting bones and characterized by osteolysis; often associated with swelling or diffuse cystic angiomatous proliferation. Associated with massive resorption of bone matrix, often called the vanishing bone disease. Can affect only one bone or may have extension to nearby soft tissue and adjacent bones. Areas commonly affected by GSD include the ribs, spine, pelvis, skull, collarbone (clavicle), and jaw.

Synonyms

Diffuse Cystic Angiomatosis of Bone; Massive Gorham Osteolysis; Vanishing Bone Disease; Disappearing Bone Disease; Phantom Bone Disease.

History

The initial description was made by L. S. Jackson as a case of massive osteolysis of the humerus in a 12-year-old boy named Mr Brown in 1838. This condition was presented in an article entitled “A Boneless Arm” in The Boston Medical and Surgical Journal (now known as 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. 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-1950s through the early 1960s conducted and reported the classical clinicopathological investigations of pulmonary embolism. 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.

Incidence

The literature frequently cites that fewer than 200 cases have been reported, though there is consensus building that there are many more cases around the world than have been reported. Gorham’s disease is extremely rare and may occur at any age, though it is most often recognized in children and young adults. It strikes males and females of all races.

Genetic inheritance

No inheritance pattern has been demonstrated.

Clinical aspects

The monofocal osteolytic lesion may occur at any age, but is more common in the first three decades of life. While the lesion may affect any part of the skeleton, the skull, shoulders, and the pelvis are the most frequently affected areas. Spontaneous fractures with absent fracture healing are common. The lesions may be painful to ...

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