Fibrodysplasia Ossification Progressiva

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).

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.

The patient presented with intrinsic discoloration on all permanent maxillary and mandibular teeth. Because the discoloration was located on the all the surfaces of the teeth, there was no radiographic appearance

Affecting only one in every 2 million people Fibrodysplasia ossificans progressiva (FOP) is one of the rarest genetic disorders of congenital skeleton malformations; identified by congenital malformation of the big toe at birth. Flare-ups occur by soft tissue injury followed by immobility. A mutation in the activin receptor IA/activin-like kinase 2 (ACVR1/ALK2), and bone protein (BMP) type I receptor were reported in all cases of FOP, making this a specific disease causing mutations in the human genome (Kaplan, 28 O). However, there is no current cure for FOP there are new developing treatments. The benefit to studying this rare

When our patient came in they had tooth colored bonding in place to change the appearance of their gum recession. Removing the bonding, Dr. Sayed performed acellular dermal matrix surgery, to restore their beautiful smile.

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.

In a normal hip, the head of the femur or “the ball” sits in the socket of the hip joint and is very rounded. There is good blood supply and allows the osteoblast to continue to generate new bone. It also allows osteocytes maintain the bone shape. The factors lead to a healthy hip and permits that child to use it efficiently. During LCPD, the blood supply to the ball of the femur is interrupted. This loss of blood to this area inhibits osteoblast to create new bone, and osteocytes

There was something strange that strongly stood out when Jeannie Peeper was born in 1958: her big toes were short and crooked. Two months after her birth, a round swelling surfaced on the back of the her head. Her parents didn’t know the cause of it, and after a few days, it disappeared. Then, the Peeper’s mother noticed that she couldn’t open her mouth as wide as her siblings. After taking her to many different doctors, Mayo Clinic discovered that she had a rare disorder. This diagnosis meant that over her lifetime, she would develop a second skeleton, and she would begin to grow new bones that would stretch across her body and some that would fuse to her original skeleton, causing her locked into immobility, within a few years. The Mayo doctors told Peeper’s parents that she would not live long. As she grew older, she realized that she could no longer fit her left hand through her sleeve, because it was locked in a backwards position due to a new bone that generated on her arm. Peeper was taken to the doctors to take a muscle biopsy from her left forearm and had to wear a cast for 6 weeks. Except, it made it worse, because the biopsy and the cast caused her elbow to grow a new bone that frozen the joint, making her unable to move it. Over the decade, as she grew more bones that stretched across her back, locked her right elbow, and froze her left hip, she became accustomed to the pain. Fortunately, she is still alive today with the disorder.

With the 580 veneers on 66 patients, several parameters were examined in this study. The type of margins and depth of the preparation, crown lengthening, presence of restoration, diastema, crowding, discoloration, abrasion, and attrition. A cox regression modeling was used to determine which factors would relate and predict porcelain laminate veneer failure. 42 veneers 7.2 percent failed in 23 patients, and an overall survival rate of 86 percent was seen. A significant association was noted between the failure and the limits of the prepared tooth surface including the margin and depth. The most frequent failure type was fracture. A multivariable analysis also showed that veneers bonded to dentin and teeth with preparation margins on dentin were 10 times more likely to have failures than veneers bonded to enamel. A survival rate of 99 percent was observed for veneers with preparations confined to enamel and 94% for veneers with enamel only at the

To completely understand how to heal your own cavities, we need to look at what causes tooth decay.

Bone at the tissue level undergoes remodeling: it is continuously being resorbed and rebuilt (or formed). A negative balance between bone resorption and formation, frequently due to excessive resorption, is the basis of many bone diseases.

The essential genes for normal tooth development which provide instructions for making proteins in the enamel are the AMELX, ENAM, and MMPO20 genes (Office of Rare Diseases Research). Proteins such as amelogenin, ameloblastin, and enamelin are critical for normal formation of the enamel (“Amelogenesis Imperfecta”). Enamel is the protective layer of tissue which protects the tooth from painful temperatures end chemicals (Office of Rare Diseases Research). “Enamel is 97% mineral by weight with approximately 1% protein and 2% water” (Wright). In Amelogenesis Imperfecta, the AMELX, ENAM, and MMP20 genes will be mutated and will alter the structure of the proteins or prevent any proteins from being made at all (“Amelogenesis Imperfecta”). This condition presents problems of socializing with others and discomfort, but they may be managed early by vigorous

MIH is a qualitative effect of enamel and there is no enamel thickness loss. Any reduction in enamel thickness seen clinically is as a result of post eruptive enamel breakdown. The Asymmetrical occurrence of MIH molars and incisors within individuals suggests that ameloblasts

With a sample size of 20-30 teeth per study group in mind, Neves et al began by extracting specimens and protecting them by capping with ProRoot Mineral Trioxide Aggregate, Kolspon alone or mixed with either 50 nM BIO or Tideglusib 50 nM. Pulp collection was then performed using the 21G needle, 23 scalpel blade, and 0.6 mm straight tip tweezer. After pulp extraction, the upper molars of the mice were dissected and fixed with PFA 4% and then scanned using a Bruker Skyscan1272 micro-CT scanner. From the scanned images, Neves et al were able to evaluate the injury site and perform mineral analysis. However, Neves et al failed to include any indication that inducing dentin growth may cause complications. Without detailing the possibility of unwanted dentin growth, Neves et al are substantially lowering the potential for Tideglusib as a treatment for caries lesions. As with most treatments, Tideglusib is not immune to the possibility of negative side effects and it is this aspect that minimizes the credibility of the study done by Neves et al.