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You may be familiar with bone diseases such as osteoporosis. However, you need to know that in this world there are many rare bone diseases. Examples such as, osteogenesis imperfecta (OI), melorheostosis, chordoma, and malignant fibrous histiocytoma (MFH). Although it is a rare bone disease, it has been detected frequently in the human body. Therefore, let us take a more complete look at the following four rare bone diseases.
1.Osteogenesis imperfecta (OI)
OI or brittle bone disease is a complex, varied and rare disease. The main characteristic of this disease is a fragile skeleton, but many other body systems are also affected. OI is caused by mutations (changes) in genes that affect bone formation, bone strength, and other tissue structures. This disease is a lifelong disorder. OI can occur in people of all ages and races. In the United States, it is estimated that between 25,000 and 50,000 people are affected by this rare bone disease.
People who have had OI often have fractures from infancy to puberty. The frequency usually decreases during early adulthood, but will increase again in later life. Respiratory problems, including asthma, are often seen. Medical characteristics and other issues including:
- Bone deformities and pain.
- Short stature.
- Curved spine.
- Low bone density.
- Loose joints, loose ligaments, and weak muscles.
- The skull features distinct, including a late crown closure, and a head circumference that is larger than normal.
- Brittle teeth.
- Breathing problems.
- Vision problems, such as nearsightedness.
- Skin bruises easily.
- Heart problems.
- Fatigue.
- Brain problems.
- Brittleness of skin, blood vessels and organs.
OI shows wide variation in appearance and severity. Severity is described as mild, moderate, and severe. The most severe form of OI can cause premature death.
2. Melorheostosis
This rare bone disease can affect both women and men, it can also affect the bones but also the soft tissues. This is a progressive type of disease, and is characterized by thickening of the outer layer of bone. Despite its benign status, it can contribute to significant pain and bone deformities, and may result in functional limitations.
This disease usually appears in childhood, sometimes several days after birth. Of those affected, 50% will develop symptoms by their 20th birthday. Although the exact cause is not known, one theory is that this condition is caused by a sensory nerve abnormality of the sclerotome.
3. Chordoma
Chordoma is a rare type of bone cancer, it often occurs in the skull and spine. It is part of a cancer family called sarcoma, which includes cancers of the bone, cartilage, muscle, and other connective tissue.
This rare bone disease is thought to arise from debris embryonic notochord, a cartilage structure that is rod-shaped and functions as a support in the formation of the spine. Notochord cells are usually present at birth, and nest in the bones and skull. Very rarely do these cells undergo a malignant transformation that leads to the formation of chordomas.
Chordoma generally grows slowly, but without stopping and tends to recur after treatment. Because they are close to the spinal cord, brainstem, nerves, and blood vessels, they are difficult to treat and require very special care.
4.Malignant fibrous histiocytoma (MFH)
MFH is a type of sarcoma, which is a malignant neoplasm with no clear origin that arises from soft tissue and bone. MFH is considered a rare bone disease. This disease usually affects patients aged 50-70 years, although it can appear at any age. Symptoms that occur, such as Is the Baby's Weight Loss Normal? When Did This Happen? and fatigue can be present in patients with advanced disease. However, the symptoms that are often present are pain, fever, chills, and night sweats. Patients with this disease also often complain of a mass or lump that appears over a short period of time from weeks to months.
