Fibrodysplasia

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).

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.

This patient is most likely presented with osteogenesis imperfecta. This disease is characterized by a group of genetic disorders that mainly affect the bones, in which the patients have their bones break easily resulting either from mild trauma or no apparent cause. Multiple fractures are commonly seen, and in severe cases, can occur even before birth. In milder cases only a few fractures may be seen. There are several types of OI, at least eight recognized forms of osteogenesis imperfecta, from type I through type VIII. They can be distinguished by their signs and symptoms, although their characteristic features may overlap (Greeley, et al., 2013). This patient apparently has the severe forms of osteogenesis imperfecta, including type I, which are characterized by bone fractures during childhood that often result frequent bone fractures from little or minor trauma. This child presented with a blue or grey tint to the part of the eye that is usually white,

Fibroids are becoming more and more common in women in the United States. It is estimated that 171 million women in the U.S. were affected by this condition in 2013(6). About 20% to 80% of women develop fibroids by age 50 (6). As many as three out of four women may have uterine fibroids in her lifetime (4). Fibroids, also known as uterine leiomyoma, are benign tumors that can be found in women of childbearing age due to its dependence on estrogen and progesterone (7). They are made of muscle cells and other tissues that can grow around or in the uterus or womb. With fibroids, a single cell divides repeatedly, eventually creating a firm, rubbery mass distinct from nearby tissue (2). Some fibroids even go through growth spurts where they grow and shrink on their by itself. There are women with fibroids who have no symptoms at all. If they do, it may consist of heavy or painful periods, frequent

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

Fibrodysplasia Ossificans Progressiva is usually diagnosed when a child is around ten years old and this disease is usually misdiagnosed as malignancy, aggressive juvenile fibromatosis and desmoids tumours. When a patient has surgery to remove the bone from his/her body, the body repairs the area by producing more bone, this happens because BMPs are affected by the disease. Therefore

The first known case of osteopetrosis was reported by the German radiologist Albers-Schönberg. Osteopetrosis, by definition, is, "a disorder in which an imbalance in the formation and breakdown of bone causes bones to be overly dense, yet weak and prone to break easily". There are two main forms that osteopetrosis comes in: malignant infantile and adult. The malignant infantile form can diagnosed during or shortly after birth and can immensely shorten the infant's life expectancy. The more formal name for the malignant infantile form is, autosomal recessive osteopetrosis. The other major form, the adult form, seems to be more milder and may not be diagnosed until adolescence or adulthood. The formal name for the adult form is, autosomal dominant osteopetrosis. There are a variety of different symptoms that can become apparent but the most common symptoms seem to be: bone fractures, low blood cell levels, impaired vision and hearing, and dental problems related to infection. I have already stated how the malignant infantile form is diagnosed, but how is the adult form diagnosed? It seems that, bones in patients with osteopetrosis appear abnormally dense and chalky whitish on x-rays. Bone biopsies are generally not recommended. Doctors may also use other tests to diagnose and gain additional information about specific problems that are related to osteopetrosis.

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.

I believe that everything happens for a reason. There are many things that have happened in my life either to my family or to me that has lead me to this my belief. Whether bad things or good things happen to us in life, we must always know that it happened for a reason remember everything happens for a reason.

My disorder research paper is about neurofibromatosis, which is a genetically-inherited disorder in which the nerve tissue grows tumors that may cause serious damage by compressing nerves and other tissues. The disorder affects all neural cells such as the Schwann cells and melanocytes. The melanocytes function abnormally in this disease, resulting to disordered skin pigmentation. The tumors would be able to cause bumps under the skin, colored spots, skeletal problems, and other neurological problems. Neurofibromatosis is also an autosomal dominant disorder, which means that only one copy of the affected gene is needed for the disorder to develop. In this case if there were only one parent who has neurofibromatosis,

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

Painful swellings in the shoulders, back area, the scalp and head are normally the first signs of FOP. Although the swellings disappear, pieces of bone are formed. Bone formation occurs also in the hips and knees during early adulthood. These bones develop after a child had a fall or injury, but it can occur without any warning. The process where swellings or lumps transform into bone is known as heterotopic ossification.

Pulmonary fibrosis is a subset of interstitial lung disease (ILD), a general category that includes various lung conditions. These disorders affect the absorption of oxygen into the lungs and impede normal breathing. Pulmonary fibrosis, like other interstitial lung diseases, affect the interstitium, the lace-like network of tissues that provides support to the lungs’ tiny air sacs, or alveoli. Tiny blood vessels travel through the interstitium, allowing gas exchange between the blood and lungs. Normally, the interstitium is too delicate to be seen in a chest x-ray or CT scan, but interstitial lung diseases like pulmonary fibrosis cause the interstitium to thicken due to scarring, extra fluid or inflammation. If you suspect you or someone you

Osgood-Schlatter also known as osteochondrosis is classified as a disease that arises in the knee in which the tibial tubercle of apophysis experiences a detachment from the proximal end of the tibia causing inflammation. Hence, Osgood-Schlatter is basically a disease which causes pain to a hackneyed tibial tuberosity. This disease may be originated from a trauma or an excessive traction of the soft apophysis of the tibial tuberosity by the patellar tendon. This lesion often occurs among adolescents as they reach puberty as it is a physical development period in which it typically occurs in females between the age of ten to twelve and boys between the age of thirteen to fifteen. Moreover, it may also occur