A 44-year-old woman came to the hospital with confusing symptoms. She felt the pain in her arms and shoulders.
Doctors who do not know the cause then do X-rays. In X-rays, doctors see abnormal lesions or tissues in the bones of the humerus (bone in the upper arm).
Initially, doctors think if this woman may have cancer. However, it turns out the biopsy did not show the existence of the disease.
The case was not resolved and the woman was finally home without getting any diagnosis from the doctor.
Until finally a year later, the woman continues to experience pain whack and even swelling in her arms. His bones will also be cracked only with minor injuries.
The doctor went back to the examination. The result surprised, the scan showed that both the humerus and the ulnar bones (one of the two bones in the forearm) disappeared.
An additional biopsy shows that the growth of blood vessels replaces the bone tissue.
Mysterious and Rare Diseases
What happened to this woman is a rare occurrence in the world of medicine. From a doctor's report at the Royal Infirmary of Edinburgh in Scotland, the woman was diagnosed with Gorham-Stout or also known as a missing bone disease.
The report, published March 22 in BMJ Case Reports, says that only 64 such cases have ever been reported in the medical literature.
This is very rare condition makes a person gradually lose bone, and unfortunately, the National Organization for Rare Disorder (NORD) has not known what causes it. The reason, there is no genetic or environmental triggers from the disease.
Doctors know only a few things related to these abnormalities, namely patients experience abnormal growth in blood vessels and lymphatic vessels, channels that carry lymph.
These aggressive vessels then penetrate into the bone causing the bone to break and crumble. The fibrous connective tissue or benign vascular tumor substitutes the bone.
No Drugs yet
The severity of Gorham-Stout's disease varies from one person to another. In many cases, the condition of the disease is regional, which means staying in one area of the body only, as in the case of this female patient where the disease only attacks her shoulders and arms but not elsewhere.
Some notes from NORD about Gorham-Stout's disease call, other bones are often affected by this disease include ribs, spine, pelvis, skull, collarbone, and jaw.
In some cases, the condition causes paralysis if the disease affects the spine or skull.
In addition, if the disease affects the rib, the patient may suffer from fluid buildup between the membranes lining the lungs.
Other notes, there is no standard treatment for this condition.
However, according to the National Center for Genetic Disease and Rare Information (GARD), there are several things that can be done, such as radiation to prevent the spread of disease, surgery to remove the affected bone area, as well as the administration of bisphosphonates which is a remedy for preventing bone loss.
"This is a rare, challenging disease in which the data on it are still very limited," the researchers wrote in their report.
Doctors who do not know the cause then do X-rays. In X-rays, doctors see abnormal lesions or tissues in the bones of the humerus (bone in the upper arm).
Initially, doctors think if this woman may have cancer. However, it turns out the biopsy did not show the existence of the disease.
The case was not resolved and the woman was finally home without getting any diagnosis from the doctor.
Until finally a year later, the woman continues to experience pain whack and even swelling in her arms. His bones will also be cracked only with minor injuries.
The doctor went back to the examination. The result surprised, the scan showed that both the humerus and the ulnar bones (one of the two bones in the forearm) disappeared.
An additional biopsy shows that the growth of blood vessels replaces the bone tissue.
Mysterious and Rare Diseases
What happened to this woman is a rare occurrence in the world of medicine. From a doctor's report at the Royal Infirmary of Edinburgh in Scotland, the woman was diagnosed with Gorham-Stout or also known as a missing bone disease.
The report, published March 22 in BMJ Case Reports, says that only 64 such cases have ever been reported in the medical literature.
This is very rare condition makes a person gradually lose bone, and unfortunately, the National Organization for Rare Disorder (NORD) has not known what causes it. The reason, there is no genetic or environmental triggers from the disease.
Doctors know only a few things related to these abnormalities, namely patients experience abnormal growth in blood vessels and lymphatic vessels, channels that carry lymph.
These aggressive vessels then penetrate into the bone causing the bone to break and crumble. The fibrous connective tissue or benign vascular tumor substitutes the bone.
No Drugs yet
The severity of Gorham-Stout's disease varies from one person to another. In many cases, the condition of the disease is regional, which means staying in one area of the body only, as in the case of this female patient where the disease only attacks her shoulders and arms but not elsewhere.
Some notes from NORD about Gorham-Stout's disease call, other bones are often affected by this disease include ribs, spine, pelvis, skull, collarbone, and jaw.
In some cases, the condition causes paralysis if the disease affects the spine or skull.
In addition, if the disease affects the rib, the patient may suffer from fluid buildup between the membranes lining the lungs.
Other notes, there is no standard treatment for this condition.
However, according to the National Center for Genetic Disease and Rare Information (GARD), there are several things that can be done, such as radiation to prevent the spread of disease, surgery to remove the affected bone area, as well as the administration of bisphosphonates which is a remedy for preventing bone loss.
"This is a rare, challenging disease in which the data on it are still very limited," the researchers wrote in their report.
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