NationMaster - Encyclopedia: Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP), is an extremely rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified when damaged. In many cases, injuries can cause joints to become permanently frozen in place. The growths cannot be removed with surgery because such removal causes the body to "repair" the area of surgery with more bone. ^[1] Image File history File links Emblem-contradict. ... Myositis ossificans comprises two syndromes characterized by heterotopic calcification of muscle. ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // M00-M99 - Diseases of the musculoskeletal system and connective tissue (M00-M25) Arthropathies (M00-M03) Infectious arthropathies (M00) Pyogenic arthritis (M01) Direct infections of joint in infectious and parasitic diseases classified elsewhere (M02) Reactive arthropathies (M023) Reiters disease (M03) Postinfective and reactive arthropathies in diseases classified elsewhere (M05-M14... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... Connective tissue is one of the four types of tissue in traditional classifications (the others being epithelial, muscle, and nervous tissue. ... For linguistic mutation, see Apophony. ... For other uses of Muscles, see Muscles (disambiguation). ... A tendon (or sinew) is a tough band of fibrous connective tissue that connects muscle to bone and is built to withstand tension. ... In anatomy, the term ligament is used to denote three different types of structures:[1] Fibrous tissue that connects bones to other bones. ... Ossification is the process of bone formation, in which connective tissues, such as cartilage are turned to bone or bone-like tissue. ...

Symptoms

Children born with FOP characteristically have short big toes. The first "flare-up" that leads to the formation of FOP bones is usually before the age of 10. It is considered a genetic disease because the bone growth starts from the top down just as bones grow on fetuses, for example a child with FOP will develop bones starting on the neck, then shoulders, arms, chest area and finally on the feet. Often, the tumor-like lumps that characterize the disease appear suddenly overnight. The gene causing the ossification is normally deactivated when the child's bones are made in the womb, but in patients with FOP this gene keeps working. Aberrant bone formation in patients with FOP occurs when lymphocytes present in the sites of injury synthesize excess bone morphogenetic protein-4 BMP4, a product that contributes to the development of the skeleton in the normal embryo Kierszenbaum, Abraham (2002), Histology and cell biology, New York: Mosby, ISBN 9780323016391 On this foot, the hallux and second toe are the same length. ... Bone morphogenetic protein 4 (BMP4) is a polypeptide belonging to the TGF-Î² superfamily of proteins. ...

because the disease is so rare, the symptoms are often misdiagnosed as cancer. This leads doctors to order biopsies, which can actually exacerbate the growth of these lumps. A biopsy (in Greek: bios = life and opsy = look/appearance) is a medical test involving the removal of cells or tissues for examination. ...

Cases

Since the 1800s there have been references in medical describing people who apparently "turned to stone" and it is possible that some of these cases may have been attributable to FOP.

The most well-known FOP case is Harry Eastlack. His condition began to develop at the age of ten and by the time of his death from pneumonia in November 1973 (six days before his fortieth birthday) his body had completely turned to rock leaving him able to move only his lips.

What makes Eastlack's case notable is that shortly before his death he made it known that he wanted to donate his body to science in the hope that in death he would be able to help find a cure for this little-understood and particularly cruel disease. As per his wishes, his preserved body now resides in The Mutter Museum and has proven to be an invaluable source of information in the study of FOP.

Treatment

There is no known cure for FOP. However, scientists have discovered a gene in sharks that may hold the cure for those suffering from FOP. Injuries from falling can provoke the bone growth and should be avoided.

Causes

FOP is caused by an autosomal dominant allele on chromosome 2q23-24. The allele has variable expressivity, but complete penetrance. Most cases are caused by spontaneous mutation in the gametes; most people with FOP cannot have children. About 2,500 cases have been reported to date, but a study has determined that it affects approximately 1 in 2 million people ("1.8 (SE +/- 1.04) x 10(-6) mutations per gene per generation").^[2] A similar but less catastrophic disease is fibrous dysplasia, which is caused by a post-zygotic mutation. An autosome is a non-sex chromosome. ... In genetics, the term dominant gene refers to the allele that causes a phenotype that is seen in a heterozygous genotype. ... Expressivity refers to variations of a phenotype in genetics. ... Penetrance is a term used in genetics that describes the extent to which the properties controlled by a gene, its phenotype, will be expressed. ... A gamete (from Ancient Greek Î³Î±Î¼ÎµÏ„Î·Ï‚; translated gamete = wife, gametes = husband) is a cell that fuses with another gamete during fertilization (conception) in organisms that reproduce sexually. ... Fibrous Dysplasia is a disease that causes growths or lesions in one or more bones of the human body. ... A post-zygotic mutation is a mutation that an organism acquires during its lifespan, rather than inheriting from its parent(s). ...

Researchers from the University of Pennsylvania announced in April 2006 that a mutation in the gene ACVR1 is responsible for the disease.^[3] ACVR1 encodes activin receptor type-1, a BMP type I receptor. This article is about the private Ivy League university in Philadelphia. ... The Activin type I receptors transduce signals for a variety of members of the Transforming growth factor beta superfamily of ligands. ... Activin is a peptide that enhances FSH synthesis and secretion and participates in the regulation of the menstrual cycle. ... Bone morphogenetic proteins (BMPs) are growth factors belonging to the TGF-Î² (Transforming Growth Factor-beta) super family with a strong ability to induce new bone and/or cartilage formation. ...

Fibrodysplasia ossificans progressiva in popular culture

The subject of Fibrodysplasia ossificans is discussed in a Dinosaur Comic.[1] Dinosaur Comics is a webcomic by Canadian writer Ryan North. ...

A patient on Grey's Anatomy (Season 3, episode 19: "My Favorite Mistake") had this disease. She was reduced to the use of only her hands and face. They were unable to perform heart surgery when it was needed because of the disease. This article contains summaries for the third season of the American medical drama television series Greys Anatomy; the season began airing on September 21, 2006. ...

Sources

References

Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 153rd day of the year (154th in leap years) in the Gregorian calendar. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ...

External links

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