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Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva. By Bryor Gage Moritz. History. First documented case of fibrodysplasis ossificans progressiva (FOP) was documented in 1692 by French Physician. FOP means “soft connective tissue that progressively turns to bone”

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Fibrodysplasia Ossificans Progressiva

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  1. Fibrodysplasia Ossificans Progressiva By Bryor Gage Moritz

  2. History • First documented case of fibrodysplasis ossificans progressiva (FOP) was documented in 1692 by French Physician. • FOP means “soft connective tissue that progressively turns to bone” • First known as myositis ossificans progressiva which means “muscle turns progressively to bone” • Later became known as FOP by Dr. Victor McKusick of John Hopkins University School of Medicine in the 1970s (Father of Medical Genetics

  3. Symptoms • Prominent symptom is the malformation of a newborn’s big toe. • Usually shorter and has a turn to it called Valgus deviation • Formation of painful fibrous nodules , tumor like swellings over neck, back, and shoulders. • Often appear after trauma to the body • The nodules transform into bone during the process of heterotrophic ossification. • When the body generates new bone, the patient experiences painful flare-ups • Tissue swelling, joint stiffness and serious discomfort can occur along with a low grade fever • Progresses through limbs to rest of body until all or most of the natural muscle turns into bone that is completely normal

  4. Inheritance • FOP is an autosomal dominant gene or condition • Means one copy of mutated gene is enough for a child to develop FOP • Uncommon due to parents with the disorder are usually unable to reproduce • Very sporadic none the less

  5. Locus/Linkage • 4q27-31, a 36-cM interval on Human chromosome number 4. • Evidence from the two studies of FOP can lead to the conclusion to rule out the noggin gene as the one that causes the disease, but still obscure • Mutations in the ACVR1 gene are held responsible for disorder

  6. Frequency/Effected Groups • Affects one in 2 million • 200 known cases in U.S. • Misdiagnosed 87% of the time for cancer • All groups can be susceptible to the disorder

  7. Age of onset • Average age of onset is 5 years old • Ranges from birth to 25 years old • By age 15 more than 95% of the patients have severely limited mobility of the arms

  8. Prognosis/Treatment • No cure and very little treatment for disease • Individuals will eventually ossify if they live long enough in life • New experimental treatment of Squalamine, an antiangiogenic found in sharks, is being tested to see if it helps to aid the progression of FOP for the better. • Avoiding damage to muscle and tissue is the only preventative.

  9. Recent Progress • Back in 2009 Researchers at the University of Pennsylvannia School of Medicine, found a gene that causes the issue in mice and is their newest focus till the present

  10. Famous/interesting Case • Most Famous case is Harry Eastlack • Body ossified until his death and he could only move his lips • His skeleton is now on display at the MütterMuseum

  11. Work Cited • https://www.ifopa.org/what-is-fop/history-of-fop.html • http://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/ • http://www.wellness.com/reference/conditions/fibrodysplasia-ossificans-progressiva-fop/symptoms-and-causes • https://www.orpha.net/data/patho/GB/uk-fop.pdf • http://medicalschool.tumblr.com/post/20127110227/fibrodysplasia-ossificans-progressiva-fop-for

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