July 12, 2018 Source: LiveScience 741
A woman aged 44 years old continuous pain in her left arm and shoulder. The doctors at the Royal Infirmary of Edinburgh in Scotland were unable to figure out the causative factor. Upon taking X-rays, they were astounded to find that the bones were disappearing. The woman was diagnosed with vanishing bone disease (Gorham-Stout disease).
When she was taken for X-rays for the first time, doctors observed a lesion in her humerus (upper arm) bone. Initially, they thought that she might have cancer. But the biopsy test result was negative. After a few months, a tumor was detected but was found to be benign. She was, however, still suffering from swelling and pain in her arm And by now, her humerus bone would sustain fractures due to minor injuries. After 18 months, both her humerus and ulnar were found to be disappearing and new blood vessels were replacing her bone region.
This is an extremely rare disease where patients suffer from progressive bone loss in the shoulder and arm regions. Other affected regions include the spine, ribs, pelvis, skull, jaw and collarbone. Only 64 cases have been reported throughout the world. According to the National Organization for Rare Disorders (NORD), no genetic or environmental causative factors of this disease have been identified.
Patients with vanishing bone disease suffer from abnormal growth of lymphatic vessels. These vessels penetrate the bone leading to its breakdown. Either benign blood vessel tumors or fibrous connective tissue replaces the bone. This is a challenging disease that lacks specific treatment. Few therapies like surgery and radiation treatment can prevent the disease from getting disseminated.
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