Fibrodysplasia Ossificans Progressiva Research Paper

Achondroplasia is when cartilage during development is not developed into bone, which results in dwarfism. This condition also characterized by short limbs is initiated by a gain of function mutation in the FGFR3 gene. This mutation is a point mutation. When this mutation occurs, the receptor of the FGF does not need the FGF signal to be activated. This causes the chondrocytes to stop dividing and start differentiating into cartilage prematurely and the bones fail to grow to their proper length, thus resulting in the short limbs that result from this mutation. (textbook) The FGFR3 gene encodes for the Fibroblast growth factor receptor 3 protein. Textbook

Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.

Some of the signs of FOP are the malformation of the big toe at birth, which can be short, bent or curved inward and help clarify the diagnosis ("IFOP a website," 30 M). However, sometimes the doctors overlook this malformation in that cases there are other signs you can look for. As infants most children crawl on there hands and knees though, infants with FOP rather than crawling they usually scoot on their gluteus maximus; then proceed straight to walking. The reason for this is ether the facet joints in the neck did not form properly or they have fused together ("IFOP a website," 30 M). Although, with FOP being congenital it starts before birth, though the extra bone growth does not. Symptoms often or usually begin in the first two decades of life and most people who are affected find out they have FOP before the age of ten ("IFOP a website," 30 M). Inflammation of the soft tissues in the body such as muscles, tendons and ligaments throughout become swollen and sometimes painful and often appear to be tumors ("IFOP a website," 30 M). However, once the swelling subsides it leaves behind a new piece of mature bone ("IFOP a website," 30 M). Typically, the inflammation and bone growth occurs in the shoulders, neck and upper back regions in early child hood followed by the areas of the spine, chest, elbows, wrists, hips, knees, ankles and jaw ("IFOP a website," 30 M). However, the growth rates of new bone

Previous research by Kaplan in the Skeleton in the closest devoted an article on Harry Eastlack living with the disease. Harry Eastlack is the perfect example of unnecessary biopsies and surgical procedures that greatly exacerbated his condition. During Harry’s lifetime, he experienced eleven operations because doctors failed to focus on the connections between the heterotopic ossification and the malformation of the toes (Kaplan, 2013). He was born with malformed toes, yet it wasn’t until his leg was struck by a car at the age of five that caused the progression of the disease. After the car accident, the flare-ups began and formed heterotopic bone in his lower limb. As the disease advanced Harry was unable to function with normal daily activities and was moved to a nursing home. Figure 4 illustrates the progression of Harry Eastlack fibrodysplasia ossificans progressiva throughout his life. Prior to his death he made a noble decision to bequeath his body and medical records to The Mutter Museum of The College of Physicians in Philadelphia for future generations to learn and study his disease (Kaplan 2013). Till this day, scientific researchers refer to his medical records as a guide to the disease. Although, Harry was never diagnosed with fibrodysplasia ossificans progressiva during his life, his contribution has made a significate impact with the members of the fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva is a rare and incapacitating condition of skeletal malformations and progressive heterotopic ossification. It was originally called myositis ossificans progressive (MOP) and was discovered by a French physician, Guy Patin, who came across a patient who had FOP. He described the patient to have “swellings” in his back (History of FOP, 2009). They changed it from MOP to FOP because other fibrous tissues in addition to muscle are replaced by bone. FOP causes excessive bone growth and begins in the early stages of life.

Fibrodysplasia ossificans progressiva (FOP) is defined as a rare genetic disorder that causes soft tissues to transform permanently into bone. These bones grow abnormally in the muscles, tendons, ligaments and other connective tissues, forming bridges of extra bone across the joints. As a result of the abnormal bone growth, movement in those areas affected by FOP is greatly limited and sometimes impossible. The condition affects many areas of the body, commonly the neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles and jaw. Similarly to Marfan Syndrome, FOP is an autosomal dominant condition, meaning that a person needs only to get the gene for FOP from one parent to inherit the disease. However, in a lot of cases, FOP occurs as a mutation and then has a 50 percent chance of passing it on to his

Familial Adenomatous Polyposis is typically diagnosed when a doctor finds multiple polyps in your colon or large intestine. A person with more than 100 polyps is considered to have FAP. A blood test is then done to look for the mutated APC gene. Since you have an almost 100% chance of getting cancer from the growths the treatment is to have them

FOP affects 1 in 2 million people with no ethnic, racial or gender patterns. There are 800 known cases across the globe with only 285 confirmed cases in the United States.

To date, there is no therapy or medication that can stop or reverse the natural progression of Fibrodysplasia Ossificans Progressiva. Though there is no definitive treatment for this rare disease, management of its symptoms can help put the patient at ease. FOP is accelerated by trauma, so avoiding and preventing falls is a must. Also, high-dose corticosteroids can be prescribed to reduce the inflammation and tissue swelling that occurs in the early stages of the disease process. (Flynn, 2011, p.182)

To start, it is a congenital disorder, meaning noticeable symptoms or physical malformations occur before birth. A common observable malformation signifying FOP at birth, are the abnormal position and structure of the big toes (5). The disorder slowly consumes an individual’s life by adding bone to muscle tissue, and other areas not normally needing bone. This process is known as

Hypophosphatasia is a metabolic disease characterized by a deficiency of tissue nonspecific alkaline phosphatase due to mutations in the genes encoding these enzymes. When tissue nonspecific alkaline phosphatases are low, inorganic pyrophosphate accumulates outside of cells and inhibits the formation of hydroxyapatite. This results bone abnormalities that resemble rickets.

Fibrodysplasia Ossificans Progressiva disease also known as ‘FOP’ is a rare genetic disease of the connective tissue. FOP can be characterized by malformations of the big toe. This malformation is a characteristic feature that helps distinguish the disease from other muscle and bone issues. It is a disease that is caused by a mutation in the bodies repair mechanism. This causes muscle and connective tissue such as ligaments and tendons, to be ossified spontaneously or when they are damaged. Sometimes the bone can be permanently frozen in place in some cases. FOP is usually seen in early childhood it starts with the neck and shoulder and proceeds down the body and into the limbs. People who suffer from FOP are basically imprisoned by their own skeleton. Majority of FOP cases are sporadic and are a result from a new gene mutation (Lerardi-Curto and Lynne). This mutation is an autosomal dominant disorder; this means it affects those who are heterozygous with a homozygous recessive partner because of this it means their children will have a fifty percent chance of having FOP. Most cases of FOP are a result from new mutations in the gene. People who have FOP and have the heterozygous phenotype have less severe affects than those who have the homozygous dominant phenotype. Patients who have FOB have the ossification gene that is still working in their bodies and it is usually turned off after a

Other medications, such as diuretics, anticoagulants and antitumor medication, may be needed to manage underlying conditions

FOP, also known as Fibrodysplasia ossificans progressiva, is a rare genetic condition. Approximately, there are about one in every two million births that get this rare disease. Sadly, a little boy named Josh was one in those 2 million births who received this rare disease. People’s lives are affected with this disease because it causes bone to form from soft tissue and usually by the victims 40s; it confines them to immobility before it takes their life. This is evident because of Dr. Snyderman’s facts, the symptoms of FOP, and how it is affecting him with just doing simple things.

The article opens with a brief statement regarding a type of conditions termed “vanishing bone” syndrome. When a person suffers from a vanishing bone syndrome, osteolysis may occur. Ostelysis is a condition in which bone may disappear or be destroyed in a pathological manner. It takes place naturally within the body, due to a genetic mutation. Winchester syndrome was one of the initial forms of vanishing bone syndrome to be recognized. Two sisters suffered from the disease whose parents were phenotypically healthy, first cousins. Both of the girls suffered from severe osteolysis. Their condition affected the digits, major joints, heart, eyes, gums, and other various aspects of the musculoskeletal system.