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Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressive is a rare genetic disorder in which connective tissue is turned into bone.

Kevin Campbell

on 6 December 2012

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Transcript of Fibrodysplasia ossificans progressiva

Stone Man's Syndrome "Fibrodysplasia ossificans progressiva" By: Kevin Campbell What does that mean? (Fibrodysplasia ossificans progressiva) "fibro"- Fibrous
"dysplasia"- Abnormality
"ossificans"- Referring to bone
"progressiva"- Continuous = "Soft connective tissue that progressively turns into bone" Symptoms A deformity of the greater toe Flare-ups (tumor-like lumps) before the age of 10 (IFOPA, 2009) (IFOPA, 2009) (IFOPA, 2009) "...bone growth starts from the neck and shoulder
and progressed along the back, trunk, and limbs"
(IFOPA, 2009) (Google Images, 2012) Demographics Affects 1 to 2 million people No ethnic, racial, or gender patterns 700 comfirmed cases across the globe 185 known cases in the United States (IFOPA, 2009) "The earliest documented cases date back to the 17th and 18th centuries. In 1692, French physician Guy Patin met with a patient who had FOP and mentioned the encounter in his writings. In 1736, British physician John Freke described at length an adolescent whose diagnosis included swellings throughout his back." (IFOPA, 2009) "The name was officially modified to fibrodysplasia ossificans progressiva in the 1970s by Dr. Victor McKusick of Johns Hopkins University School of Medicine, who is considered the father of Medical Genetics." (IFOPA, 2009) [Mis]Diagnosis FOP has an 80% misdiagnosis rate Cancer Aggressive Juvenile Fibromatosis Fibrous Dysplasia "In aggressive fibromatosis, the lesions do not progress beyond the connective tissue growth phase"
(IFOPA, 2009) "Fibrous dysplasia is an abnormal bone growth where normal bone is replaced with fibrous bone tissue. Fibrous dysplasia causes abnormal growth or swelling of bone." (Wikipedia, 2012) References Fibrodysplasia ossificans progressiva. Frederick S. Kaplan, MD, Martine Le Merrer, MD, PhD, Professor of Genetics, David L. Glaser, MD, Robert J. Pignolo, MD, PhD, Robert Goldsby, MD, Joseph A. Kitterman, MD, Jay Groppe, PhD, and Eileen M. Shore, PhD

Insights from a Rare Genetic Disorder of Extra-Skeletal Bone Formation, Fibrodysplasia Ossificans Progressiva (FOP). Eileen M. Shore and Frederick S. Kaplan

Kierszenbaum, Abraham (2002). Histology and cell biology. New York: Mosby. ISBN 978-0-323-01639-1. In April 2006, after 15 years of painstaking research, the FOP research team at the University of Pennsylvania School of Medicine, and their international collaborators, pinpointed a single gene mutation -- one letter out of six billion in the human genome -- that causes the runaway bone growth of FOP. This groundbreaking discovery is being used to unlock the mysteries of FOP, as well as the secrets of many common skeletal conditions, such as osteoporosis, osteoarthritis, post-amputation treatment, and specific complications of hip replacements, spinal cord injuries, head injuries and some heart valve disorders. Research The gene that causes ossification is normally deactivated after a fetus' bones are formed in the womb, but in patients with FOP, the gene keeps working. Aberrant bone formation in patients with FOP occurs when injured connective tissue or muscle cells at the sites of injury or growth incorrectly express an enzyme for bone repair during apoptosis (self-regulated cell death), resulting in lymphocytes containing excess bone morphogenetic protein 4 (BMP4) provided during the immune system response. THE CULPRIT
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