Fibrodysplasia Ossificans Progressiva

Signs and symptoms vary based on the type of Osteogenesis Imperfecta the patient has. The most common type is Type I. This is a mild type of the disease and often is not diagnosed until adulthood. Some common symptoms are brittle teeth, hearing loss in some cases, blue sclera, easy bruising, and mild delay in motor skills. In most cases there is little or no bone deformity, normal height,

2). In addition, this disease causes death, short stature, blindness, and hearing loss. “Seventy percent of children with malignant infantile osteoporosis die by the age of six years, and almost 100 percent do not live to the age of 10 years” (Stocks et al., p. 2). The main cause of death is bone marrow failure, due to non-functioning osteoclasts. Some children will also have delays in muscle coordination, nerve compression, low levels of iron, crossed eyes, tooth decay, abnormal hardening of the bones, and fractures. (“Osteopetrosis,” 2008).

The FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

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

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

Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone, forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. It usually becomes evident during early childhood, always starting with the neck and shoulders and proceeding down the body into the limbs.

The severity of this condition can be classified into 4 different types based on the Brooker classification. But the simpler classification model only has 3 levels, going from grade A all the way to grade C. Grade A is the least severe, to be classified as this the bone fragments have to be less than 1 centimeter and there has to be at least 1 bone island. Grade A basically means the presence of a bone fragment in the tissue but it is so small it is practically irrelevant. Grade A is the only classification where heterotopic ossification is not present. Grade B on the other hand is classified when there is still at least 1 bone island but they are at least 1 centimeter in length instead of less than 1 centimeter. There also has to be a presence of bone spurs in the femur or pelvis, plus the different bone surfaces have to be 1 centimeter apart. The final of the simpler, 3 grade,

Fibrodysplasia Ossificans Progressiva, FOP, is a rare and disabling bone disease. It is caused by a genetic mutation of the gene that controls the growth and development of the bones and muscles. The man who discovered this game-changing information is Dr. Kaplan. “The discovery of the mutation immediately suggests an approach to treatment: either to block the renegade proteins or to destroy the message coming from the mutant copy of the gene that creates the renegade proteins, says Kaplan” (Cause of: FOP). Muscle and connective tissues, as well as tendons and ligaments, are gradually ossified, meaning they are replaced by bone. This limits and eventually permanently prohibits movement. FOP usually starts

The FBN1 gene located on chromosome 15q21.1 codes for fibrillin-1 and contains 65 coding and 3 spliced exons. Fibrillin-1 has 6 conserved cysteine residues and 7 TGF-B binding domains and its role is to form sheaths around elastic fibres thus controlling the elasticity and flexibility of connective tissue [6]. Sixty six percent of genetic mutations causing Marfan’s syndrome are missense mutations. This can cause an amino acid to be changed for another, resulting in changes in the protein’s

The first sign of FOP is malformed big toes. This can be observed at birth. Although FOP starts before birth, extra bones do not form before birth.

The hallmark of myositis ossificans is presence of ossification in muscle or soft tissue.23 Myositis ossificans is broadly classified into two types: myositis ossificans progressiva and myositis ossificans traumatica. Myositis ossificans progressiva, also called ‘fibrodysplasia ossificans progressiva’, is an autosomal dominant disease of connective tissue characterized by symmetric congenital malformations of the hands and feet24 causing motion restriction in children.25 Myositis ossificans traumatica, also termed ‘myositis ossificans circumscripta, heterotopic ossificans, localized myositis ossificans, fibrodysplasia ossificans circumscripta, or traumatic myositis ossificans’, has been frequently reported in the orthopedic literature most