Fibrodysplasia Ossificans Progressiva
The Second Skeleton inside Me
Human Anatomy and Physiology 1
The Second Skeleton inside Me
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 disorder holds the key to discovering cures for other bone related disorders. The rare disorder of Fibrodysplasia ossificans progressiva known as FOP was fist described in a letter from a London physician to The Royal Society of Medicine dating back to 1736, which then published in 1740 (Kaplan, 28 O). “The letter written by John Freke of Saint Bartholomew’s Hospital, London read. ‘There came a boy of healthy looking, and about 14 years of age, to ask of us at the hospital, what should be done to cure him of many large swellings on his back, which began about 3 years since, and have continued to grow as large on many parts as a penny loaf particularly on the left side. They arise from all the vertebrae of the neck and reach down to the os sacrum; they likewise arise from every rib of his body, and joining together in all parts of his back, as the ramifications of coral do, they make as it were, a fixed bony pair of bodice’(Kaplan, 28 O). However, the disorder did not arise again until nearly 200 years later in the when a letter came in from Jules Rosenstirn of Mount Zion Hospital in San Francisco, CA in 1918 (Kaplan, 28 O). The letter read ‘One does not wonder that a disease, so baffling in its course from the first causes to its
Human Anatomy and Physiology 1
The Second Skeleton inside Me
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 disorder holds the key to discovering cures for other bone related disorders. The rare disorder of Fibrodysplasia ossificans progressiva known as FOP was fist described in a letter from a London physician to The Royal Society of Medicine dating back to 1736, which then published in 1740 (Kaplan, 28 O). “The letter written by John Freke of Saint Bartholomew’s Hospital, London read. ‘There came a boy of healthy looking, and about 14 years of age, to ask of us at the hospital, what should be done to cure him of many large swellings on his back, which began about 3 years since, and have continued to grow as large on many parts as a penny loaf particularly on the left side. They arise from all the vertebrae of the neck and reach down to the os sacrum; they likewise arise from every rib of his body, and joining together in all parts of his back, as the ramifications of coral do, they make as it were, a fixed bony pair of bodice’(Kaplan, 28 O). However, the disorder did not arise again until nearly 200 years later in the when a letter came in from Jules Rosenstirn of Mount Zion Hospital in San Francisco, CA in 1918 (Kaplan, 28 O). The letter read ‘One does not wonder that a disease, so baffling in its course from the first causes to its
References: 1. Kreeger, K. (2006, April 23). Penn researchers discover gene that creates second skeleton. Retrieved from http://www.usbjd.org/research/research_op.cfm?dirID=233 2. Kaplan, F. S. M. (28 O). Pubmed central. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/ 3. McRot, W. (2012, may 14). Nih genetics home refrence. Retrieved from http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva 4. Ucsf benioff children. (2011, Sept 27). Retrieved from http://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/ 5. Paul, C. (Jan ). Biology @ suite 101. Retrieved from http://paul-campobasso.suite101.com/fibrodysplasia-ossificans-progressiva-stone-man-syndrome-a400243 6. ashland.ed. (2010, september 27). Retrieved from http://apps.ashland.edu/index.php/Fibrodysplasia_Ossificans_Progressiva 7. Shawn, A. M. (June). Medscape . Retrieved from http://emedicine.medscape.com/article/390416-overview 8. International Fibrodysplasia Ossificans Progressiva Association. (2009). Fop skeleton. [0]. Retrieved from http://www.ifopa.org/en/what-is-fop/fop-skeleton.html