Fibrodysplasia Ossificans Progressiva is a Disorder of the Muscle and Connective Tissue

My gene is located at chromosome 9 on the long (q) arm at position 34, 9q34.

Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).

four million Americans have this disease. Low bone mass is also included in this count,

Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the

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.

People who have FOP have flare-ups that occur randomly and without a warning. Also, there is a very unlikely chance to have FOP, 1 in 2 million people have this disorder. A person who has this disorder will be noticeable in the person’s early childhood.

3,200 cases in the United States. From research and data they conducted and gathered, they

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.

Although Fibrocystic Disease is common, women don’t know about it until they actually get it. The physicians are not calling this a disease, but rather a condition now.

Fibrodysplasia Ossificans Progressiva is a rare disease that over activates osteogenesis, or bone formation. The disease may also be referred to as “the stone man” disease because it essentially leads to the stiffening of the body, causing restricted mobility. Overall, the predisposition for fibrodysplasia is extremely low for individuals worldwide, as it only affects 1 in 2 million people (10). There seems to be no clear correlation of demographics of people suffering from FOP; the genetic disorder occurs randomly. However, those who live with the disorder face a difficult predicament.

Heterotopic ossification(HO) is a condition that occurs when there is bone present in soft tissue. Heterotopic ossification is often caused after instances of musculoskeletal trauma, after an event that has caused injuries to the spine, or severe brain injury in some cases.

There are numerous factors that contribute to the development of this horrible disease, but the most important factor is vitamin D deficiency. When the minerals in osteoid crystallize, they require adequate concentration of calcium and phosphate. When the concentration is not at the correct level, ossification does not proceed normally (Huether & McCance, 2008). Vitamin D regulates the absorption of calcium from the intestine. When there is a lack of vitamin D, the concentration of calcium begins to fall (Huether & McCance, 2008). The body begins to regulate this calcium drop by increases the amount of PTH synthesis and secretion (Huether & McCance, 2008). An increase of PTH causes a clearance of phosphate and without the correct levels of phosphate mineralization of the bones cannot proceed in the correct manor (Huether & McCance, 2008). The abnormality of bone growth can occur in spongy and compact bone (Mayo

Ossifying fibroma (OF) is a non-odontogenic fibro-osseous neoplasm that primarily arises during the 3rd to 4th decade of life (Su et al., 1997a, Summerlin & Tomich, 1994, Eversole et al., 1985a, MacDonald-Jankowski, 2009b). Women are affected 2.5 times more frequently than men (MacDonald-Jankowski, 2009b). OF primarily affects Caucasians, followed by patients of African decent (Mintz & Velez, 2007, Su et al., 1997a, Eversole et al., 1985b). The molar and premolar regions of the mandible are the sites of predilection. When presenting in the maxilla, the canine fossa and zygomatic arch are most frequently affected (White & Pharoah, 2014).

The known risk factor for this disease is the old age, when men get older the prostate tissue increase the receptivity to growth factor, and the body increase the production of estrogen which seems to prime androgen receptors in the prostate, stromal tissue ( fibromuscular and connective tissue) stimulated by androgens dihydrotestosterone(DHT) the main prostatic intracellular androgen stimulate the androgen receptor on the stromal cells which stimulate the growth of the fibromuscular tissue. Increasing the number of cell will increase the size of the prostate, hyperplasia will push up against the fibrous capsule which will increase the pressure on the urethra. Fibromuscular hyperplasia will increase the smooth muscle tone in the preprostatic

Other signs of FOP are proximal medial tibial osteochondromas, malformation of the upper part of the spinal