Fibrodisplasia osificante progresiva: aportación de 2 casos. Progressive ossifying fibrodysplasia: Report of two cases. B. Pérez-Seoane Cuencaa, R. Merino. Aspectos epidemiológicos y de interés público-sanitario de la fibrodisplasia osificante progresiva en España. Article in Medicina Clínica (4) · April with. A Groundbreaking Pathogenic Model. ¿Es la «fibrodisplasia osificante progresiva» una enfermedad de origen vascular? Un modelo patogénico innovador.

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Fibrodysplasia ossificans progressiva FOP is an extremely rare connective tissue disease.

The disease is caused by a mutation of the body’s repair mechanism, which progreziva fibrous tissue including muscletendonand ligament to be ossified spontaneously or when damaged.

In many cases, injuries can cause joints to become permanently frozen in place.

Orphanet: Fibrodisplasia osificante progresiva

Surgical removal of the extra bone growths has been shown to cause the body to “repair” the affected area with even more bone. For unknown reasons, children born with FOP have gibrodisplasia big toessometimes missing a joint or, in other cases, simply presenting with a notable lump at osifficante minor joint.

The first “flare-up” that leads to the formation of FOP bones usually occurs before the age of The bone growth progresses from the top of the body downward, just as bones grow in fetuses. A child with FOP will typically develop bones starting at the neck, then on the shoulders, arms, chest area and finally on the feet.

Specifically, ossification is typically first seen in the dorsal, axial, cranial and proximal regions of the body. Later the progreiva progresses in the ventral, appendicular, caudal and distal regions of the body. Often, the tumor-like lumps that characterize the disease appear progreskva. This condition causes loss of mobility to affected joints, including the inability to fully open the mouth, limiting speech and eating; a specific occurrence of this condition to the foot joints can result in immobilization of the hip or other joint limiting the ability of the FOP patient to put their foot flat on the ground.


Extra bone formation around the rib cage restricts the expansion of lungs and diaphragm causing respiratory complications. Since the disease is so rare, the condition may be misdiagnosed progreesiva cancer or fibrosis. This leads physicians to order biopsieswhich can exacerbate the growth of these lumps. The median age of survival is 40 years with proper management. However, delayed diagnosis, trauma and infections can decrease life expectancy.

FOP is caused by an autosomal dominant allele on chromosome 2q Most cases are caused by spontaneous mutation in the gametes ; most people with FOP cannot or choose not to have children. A similar but less catastrophic disease is fibrous dysplasiawhich is caused by a post-zygotic progfesiva. The mutation causes osificcante of codon from arginine to histidine firbodisplasia the ACVR1 protein. This causes endothelial cells to transform to mesenchymal stem cells and then to bone. FOP is an autosomal dominant disorder.


Two affected individuals can produce unaffected children. The homozygous dominant form is more severe than the heterozygous form.

The gene that causes ossification is normally deactivated after a fetus’s 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 deathresulting in lymphocytes containing excess bone morphogenetic protein 4 BMP4 provided during the immune system response. The bone that results occurs independently of the normal skeleton, forming its own discrete skeletal elements.

These elements, however, can fuse with normal skeletal bone. BMP4 is a product that contributes to the development of the skeleton in the normal embryo. DNA sequencing electropherograms of a typical FOP patient can differ when being compared to two other patients.

This protein is responsible for growth and development of bone and muscles. Scientists theorize that a mutation in the ACVR1 changes the shape of the receptor and disrupts certain mechanisms that control the receptor’s activity.

There is a certain molecule, otherwise known as a ligand, that binds at the site to cause this reaction to activate with which it forms a complex. Due to the mutation, however, the bind site is modified and no longer stops the reaction. Most of the cases of FOP were results of a new gene mutation: There are some cases which have shown people inheriting the mutation from one affected parent. Outbreaks may be measurable clinically by elevated levels of alkaline phosphatase and bone-specific alkaline phosphatase.

There is no cure or approved treatment for FOP. Medical reports describing individuals affected by FOP date back as far as the seventeenth century. McKusick in following the discovery that soft tissue other than muscles e.

His condition began to develop at the age of ten, and by the time of his death from pneumonia in Novembersix days before his 40th birthday, his body had completely ossified, leaving him able to move only his lips. Eastlack only lived to meet one other person with his same disease. Eastlack donated his body to science. Clinical trials of isotretinoinetidronate with oral corticosteroidsand perhexiline maleate have failed to demonstrate effectiveness, though the variable course of the disease and small prevalence induces uncertainty.


A handful of pharmaceutical companies focused on rare disease are currently in varying stages of investigation into different therapeutic approaches for FOP. In AugustU. In AugustClementia Pharmaceuticals also began the enrollment of children ages 6 and above into its Phase II clinical trial investigating palovarotene for the treatment of FOP.

Palovarotene received Fast Track designation from the U. In SeptemberRegeneron announced new insight into the mechanism of disease involving the activation of the ACVR1 receptor by activin A.

Fibrodisplasia Osificante Progresiva – How is Fibrodisplasia Osificante Progresiva abbreviated?

Inthe company initiated a phase progreslva study of its activin antibody, REGNin healthy volunteers; a phase 2 trial in FOP patients was conducted in Further investigation into the mechanisms fibrodlsplasia heterotopic bone formation in FOP could aid in the development of treatments for other disorders involving extra-skeletal bone formation. From Wikipedia, the free encyclopedia. Some of this article’s listed sources may not be reliable. Please help this article by looking for better, more reliable sources.

Unreliable citations may be challenged or deleted. August Learn how and when to remove this template message. Glaser, MD, Robert J.

Fibrodysplasia ossificans progressiva

A Tumour for which Surgery will do more harm than good: Niger Postgrad Med J. The Pan African Medical Journal. Journal of Bone and Mineral Research. Cengage Learning, Histology and cell biology. National Library of Medicine, August Accessed February 18, Orphanet Journal of Rare Diseases. Lessons of formation, repair, and bone bioengineering”.

Archived from the original on 21 June British Journal of Anaesthesia. Retrieved October 25, Retrieved 22 November Archived from the original on 29 September International Fibrodysplasia Ossificans Progressiva Association. Myopathy M60—M63fibrodisplasiz Myositis ossificans Fibrodysplasia ossificans progressiva Compartment syndrome Anterior Diastasis of muscle Diastasis recti Muscle spasm. Retrieved from rpogresiva https: Congenital disorders Rare diseases Muscular disorders Genodermatoses.

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The effects of fibrodysplasia ossificans progressiva, a disease which causes damaged soft tissue to regrow as bone. D ICD –