FOP Patient: A Case Study

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.

On examination, cervical and lumbar spine is restricted in all planes with increased pain. Muscle guarding is also noted. The patient is not able to heel and toe walk. He is obese and deconditioned. Straight leg raise (SLR) is positive bilaterally. Muscle guarding is noted along cervical paraspinal and trapezius muscle groups bilaterally. Sensation is normal to light touch, pinprick, and temperature along all dermatomes of the bilateral upper extremities, except right C6-8, decreased to

Inspection of the right shoulder joint reveals atrophy. Movements are restricted with flexion to 90 degrees limited by pain and abduction to 75 degrees limited by pain. Hawkin’s test, Neer’s test, Shoulder crossover test, Empty Cans test, Lift-off test, and Apprehension test is positive. On palpation, tenderness is noted in the acromioclavicular joint and subdeltoid

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

He was subjected to several CT scans, and ultimately diagnosed with a fracture of the spinous process of the thoracic vertebra. The radiologist notes indicate the fracture was non displaced and could even possibly be congenital.

FD performed a focused trauma assessment to find no noticeable abnormalities, limited range of motion, and restricted circulation w/ pale acrocyanosis.

On examination of the right shoulder, there is pain on range of motion. Abduction was 160 degrees. Forward flexion was 165 degrees.

FOP misdiagnosis can cause a doctor to order biopsies of the bones, which can actually result in exacerbation of lumps.

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.

DOI: 6/26/2002. The patient is a 64 -year-old female patrol officer who sustained a work-related injury to her back, shoulder and legs due to constant driving at work. As per OMNI, the patient is status post lumbar surgery on 1/13/11 and epidural steroid injection on 9/24/12. MRI of lumbar spine with and without contrast dated 6/6/12 revealed congenitally shortened pedicales at the L1-L2 level but no impingement on the thecal sac or nerve roots at this level is identified; desiccated L2-L3 disc with bilateral facet joint arthropathy resulting in moderate bilateral neural foraminal stenosis but no impingement on the thecal sac or nerve roots at this level is identified; desiccated L3-L4 disc with bilateral facet joint arthropathy resulting in moderate bilateral neural foraminal stenosis but no impingement on the thecal sac or nerve roots at this level is identified;

The earliest sign or what a doctor would look for in this disease is that the person will have a limp. It may even be a painless limp. There could be pain in the anterior part of the thigh or knee. There have been cases where the child has had pain concentrated only in the hip area and nowhere else in the leg. An article from the National Osteonecrosis Foundation says, “…often you will first notice limping during your child’s active play”. The child usually will not be able to pinpoint the exact moment when they got injured, or exactly where the pain is if it towards the knee area. The patient also could experience a limited range of motion or stiffness in the affected area. Symptoms described to the doctors would also be pain can be experienced with internal rotation and abduction of the joint, and also in the gluteus medius. Other places other than the hip joint that can experience pain is the groin, thigh, or knee, but the most common symptom in LCPD is persistent pain in the hip joint. The pain is usually aggravated during activity, so kids who are very active would experience more pain than a kid who sits most of the day. A symptom that would be described to the doctor would also be pain that goes away with rest. Children with LCPD may complain of muscle spasms of the legs, and the patient could experience the loss of muscle mass in the quadriceps. In emergency situations the child may even experience a fever

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

Osteomalacia may be asymptomatic and present radiologically as osteopenia. It can also produce characteristic symptoms, independently of the underlying cause, including diffuse bone and joint pain, muscle weakness, and difficulty walking .