Gorham-Stout syndrome: disappearing bone disease
What is Gorham-Stout syndrome?The Gorham-Stout syndrome or Gorham's disease is also called the 'disappearing bone disease' (vanishing bone disease) called. It is a very rare condition, the main symptom of which is the abnormal production of blood vessels, which slowly displace bone, causing it to perish literally. The symptoms of the condition are very diverse, depending on which bones are affected. It can occur anywhere in the skeleton, but most often it involves the shoulder, upper arm, pelvis, jaw, ribs and spine.
The condition is named after the oncologist Lemuel Whittington Gorham and surgeon Arthur Purdy Stout. In 1954 they published a case study of sixteen cases that were later classified as Gorham-Stout syndrome.
SymptomsThe condition is often noticed by acute pain and swelling on one of the affected bones, possibly also in combination with a decrease in strength and visible deformation of a joint. However, it is also possible that you are free of complaints until you get a fracture due to an innocent trauma. The progression of the disease varies from patient to patient and is difficult to predict. Where one patient can undergo a stabilization or remission, the disease can worsen in another so that it has a fatal outcome. This is especially the danger when the skull or backbone is affected. In many cases, this leads to paralysis and possibly even the failure of the respirator. Patients who present themselves to a doctor with respiratory problems due to Gorham-Stout syndrome are often firstly incorrectly diagnosed with asthma because the damage to the lungs can be very similar to the damage that can be caused by asthma.
In 2018, doctors from the Royal Infirmary of Edinburgh hospital in Scotland published the case of a 44-year-old woman. She reported to a specialist with pain and loss of strength in her left shoulder. X-rays showed that the bone in her shoulder and upper arm showed lesions and thinners. Initial biopsies did not lead to a definitive diagnosis. Twelve months later, when the woman still suffered from pain and swelling, an X-ray was taken again. This showed that the bone was affected to an advanced degree. An MRI showed an increase in vascular lesions. Subsequent x-rays and MRIs subsequently showed that the disease progressed rapidly. Photos taken fifteen and eighteen months after the first showed that the bone had largely perished. As a result, the diagnosis of Gorham-Stout syndrome was made, of which only 64 cases were known worldwide until then.