Fibrous dysplasia is a genetic disorder and there's no cure. Treatment, which may include surgery, focuses on relieving signs and symptoms.Fibrous dysplasia may cause few or no signs and symptoms, particularly if the condition is mild. More severe fibrous dysplasia may cause: Bone pain, Bone deformities, Fractures, and Nerve entrapment. Severe fibrous dysplasia can cause: Bone deformity or fracture. The weakened area of an affected bone can cause the bone to bend. These weakened bones also are more likely to fracture.Vision and hearing loss. The nerves to your eyes and ears may be surrounded by affected bone. Severe deformity of facial bones can lead to loss of vision and hearing, but it's a rare complication.Arthritis. If leg and pelvic bones are deformed, arthritis may form in the joints of those bones.Cancer. Rarely, an affected area of bone can become cancerous. This rare complication usually only affects people who have had prior radiation therapy. …show more content…
Osteoporosis medications, particularly pamidronate , may help strengthen bones affected by fibrous dysplasia.
This can relieve pain and help reduce the risk of fractures.Your doctor may recommend surgery in order to: Correct a deformity, Correct a difference in limb lengths, Fix a fracture remove an affected area of bone that's causing you difficulty Relieve pressure on a nerve, particularly if the lesion is in your skull or face. Surgery may involve removing the bone lesion and replacing it with bone grafted from another part of your body or from bone tissue donated from deceased donor. Your surgeon may insert metal plates, rods or screws to stabilize the bone and the graft. Risks include infection, blood clots and bleeding. In addition, a bone graft may not
last. Conversely, some affected individuals can have multiple bones affected and develop severe and potentially disabling or disfiguring symptoms. In most cases, onset of symptoms is usually in childhood; it is unusual for the onset of the disorder to occur after 10. Also, polystotic fibrous dysplasia is known to have multiple associations with other disorders. The combination of polyostotic fibrous dysplasia, precocious puberty, and cafe au lait spots is called Albright's syndrome. The association of fibrous dysplasia and soft tissue tumors has been given the name Mazabraud's syndrome. Other endocrine abnormalities including hyperthyroidism, Cushing's disease, thyromegaly, hypophosphatemia, and hyperprolactinemia have been associated with fibrous dysplasia. The tissue in the tumor is immature, woven bone that cannot differentiate in to mature, lamellar bone. This may be due to a mutation in a cell surface protein. This is a somatic mutation, rather than in the germline. The abnormality is limited to the tissues within the lesions. The cells have an increased number of hormone receptors, which may explain why these lesions become more active during pregnancy. This author has seen patients who have increased pain in their fibrous dysplasia lesions linked to their monthly menstrual cycle.
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder (Kartal-Kaess et al., 2010). This means that the disorder is hereditary; an individual can only get the disorder if one of the parents has it and passes it on to the offspring. The main characteristic of this disorder is the hardening of skeletal muscles, connective tissue, tendons, and ligaments (Kartal-Kaess et al., 2010). The skeletal muscles, connective tissue, tendons and ligaments start to progressively become bone. Skeletal muscles, connective tissue, tendons and ligaments are places where bone does not grow in regular individuals that do not have FOP. Other characteristics of FOP include benign tumor composed of bone and cartilage in the tibia, abnormal growth on the cervical spine, wide and small femoral necks and hearing loss (Kartal-Kaess et al., 2010).
The gene which is responsible for this disease, FGFR3, is located on chromosome 4 at 16.3, which is on the short arm near the telomere (4). Under normal circumstances, this gene forms fibroblast growth receptor 3 which interacts with a protein to begin a stream of signals that contribute to bone development and maintanence; it is also thought that this gene is also important in other tissue development (6, 7, 10-12). Some of the known pathways involved with FGFR3 are STAT1/3, STAT5, MEK1, ERK1, and MAP kinase signaling. Chondrogenesis and osteogenesis are two processes managed by these pathways and are greatly affected by a mutation (13-15). The sections of these pathways that involve and are affected by the mut...
If you and a surgeon have decided that surgery is your best option to achieve a full recovery, then it is best to be informed of all surgical options. There are two primary surgical methods: plates and pins. There are advantages and disadvantages to both options, and they serve different functions.
At younger age sets in and wastes away muscles in multiple parts of the body making life hard for the affected individuals. This wasting starts at the face and continues to the shoulders where it is more severe. But these are not the only effects Infantile facioscapulohumeral muscular dystrophy has on the individual. Infantile facioscapulohumeral muscular dystrophy also has non-muscular effects. A person diagnosed with this disorder will have vision problems, hearing loss and sometimes seizures.
This chapter will begin with a short explanation of what Muscular Dystrophy is and a general information paragraph over each type of the major muscular dystrophies today.
The pancreas can be divided into two sections when studying the histology. The pancreas has exocrine and endocrine functions, each with unique cell types. The exocrine pancreas serves to secrete digestive enzymes into the duodenum. Some of the specific enzymes and secreted substances are Proteases, lipase, amylase, bicarbonate, and water (Bowen, “Exocrine Secretions”). These enzymes are used to break down protein, fat, and carbohydrates respectively. The bicarbonate simply act as an acid buffer to prevent damage of the small intestine as the stomach acid must be neutralized. The enzymes are created in acinar cells and the bicarbonate is synthesized in epithelial cells surrounding pancreatic ducts (Bowen “Exocrine
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
Cystic Fibrosis is an inherited disease characterized by the buildup of thick, sticky mucous that can cause severe damage to the body’s organs. Mucous is usually a slippery substance that lubricates and protects the linings of the airway, digestive system, reproductive system and other organs and tissue. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight-loss. Due to the abnormally thick mucous it can can clog airways, leading to breathing problems and bacterial infections in the lungs. Bacterial infections can lead to coughing, wheezing and inflammation. Overtime these infections can lead to permanent damage in the lungs including the formation of scar tissue, known as fibrosis and cysts in the lungs (Genetics Home Reference, 2013). The symptoms and signs of this disease vary but mostly include progressive damage to the respiratory system and chronic digestive system problems. An individuals’ lungs who are infected by cystic fibrosis have bacteria from an early stage. This bacteria can spread to the small airways, leading to the formation of bacterial micro-environments known as biofilms. Biofilms are difficult for antibodies to penetrate, therefore the bacteria repeatedly damage the lung and gradually remodel the airways, resulting in difficultly to eradicate the infection (Welsh, 1995). Cystic fibrosis patients may even have their airways chronically colonized be filamentous fungi and/or yeasts. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm are blocked by mucous and do not develop properly. As well, women may experience complications in pregnancy. Either the c...
In the end, it is all based on preference and financials. Some people may suffice with only some rehabilitation while others would require surgery and it would be in their best interest. It is a decision that should be left to both the patient and doctor. Amanda determined the most efficient way, despite what her doctors said and now she is gearing up for yet another successful soccer season as a senior.
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
It is associated with a higher risk of pregnancy complications and certain ovarian cancers. Due to the importance of this condition, it is critical that patients understand its causes, symptoms, and treatment. By the end of this article, you will have the answers to these essential questions:
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory
Osteoporosis was first mentioned by Sir Astley Paston Cooper. Other common symptoms include gum disease, tooth decay, premature graying of hair, arthritis, low back pain, leg cramps, and nail growth. Fragility fracture occurs when a person falls from a standing position or a low height and breaks a bone that would not break in a person with a healthy bone. Heritability of bone mass estimated to account for 60-90% of its variance (Kaczkowsi, 2013).
Bone diseases most directly influence the ability to walk or to move any part of the body--hands, limbs, neck, and spine. They are related to joint disorders--ARTHRITIS, COLLAGEN DISEASE, DISLOCATION of joints, and RHEUMATISM. The medical specialty pertaining to bone disorders is ORTHOPEDICS. Fractures are the most common bone disorders. They can occur as the result of an accident or be secondary to metabolic diseases.
Dystrophic epidermolysis bullosa is one of the major forms of Epidermolysis Bullosa. In minor cases, blistering affects the hands, feet, knees, and elbows. Severe cases involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by changes in the type VII collagen gene that may be inherited as a dominant or recessive subtype. Some patients might even need nutritional supplements, occupational therapy or surgery depending on the severity of their condition. The article addresses the current standards of managing chronic wounds in DEB as well as developing therapies that may possibly lead to the ability to cure this heritable skin disease.