fibrodysplasia ossificans progressiva


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fibrodysplasia ossificans progressiva (FOP)

 
A rare genetic disease characterized by acute soft-tissue swelling after minor trauma, such as dental work or intramuscular injections, that leads to heterotopic bone formation.

fi·bro·dys·pla·si·a os·sif·'i·cans pro·gres·si·'va

[MIM*135100]
a generalized disorder of connective tissue in which there is ectopic ossification with bone replacing tendons, fasciae, and ligaments; a lethal genetic disorder of autosomal dominant inheritance.
See also: fibrous dysplasia of bone.
A rare idiopathic or autosomal dominant MIM 135100 condition of irregular penetration and pre-pubertal onset, in which connective/interstitial tissues undergo extensive fibrosis and heterotopic ossification of ligaments, tendons, muscle, fascia, aponeuroses and skin, first seen in late childhood as firm masses. The abnormal development of bone may lead to stiffness in affected areas and may also limit movement in affected joints, e.g., knees, wrists, shoulders, spine, and/or neck
DiffDx Osseous metaplasia, myositis ossificans, extraskeletal osteosarcoma

fibrodysplasia ossificans progressiva

FOP, Generalized myositis ossificans, myositis ossificans progressiva, stone man An idiopathic or AD condition of irregular penetration and pre-pubertal onset, in which connective/interstitial tissues undergo extensive fibrosis and heterotopic ossification of ligaments, tendons, muscle, fascia, aponeuroses, skin, first seen in late childhood as firm masses Clinical Microdactyly, focal, transient, ±painful ossifying tumors in neck, back and extremities, with bony replacement of fasciae, ligaments and fibrotendinous tissue; also baldness, deafness, mental retardation, fever; tragically, Pts may find jobs in circus 'freak' shows; usually glossal, diaphragmatic, laryngeal, and perineal muscles are spared and Pts die of respiratory infections as intercostal muscles become petrified DiffDx Osseous metaplasia, myositis ossificans, extraskeletal osteosarcoma. Cf Parana hard skin syndrome, Stiff man syndrome.
References in periodicals archive ?
Nishio et al., "Activin-A enhances mTOR signaling to promote aberrant chondrogenesis in fibrodysplasia ossificans progressiva," The Journal of Clinical Investigation, vol.
The genetics of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 2005, 3:201-204.
Contrast-Enhanced MRI of an Early Preosseous Lesion of Fibrodysplasia Ossificans Progressiva in a 21-Month-Old Boy.
Fibrodysplasia ossificans progressiva is a muscle disorder and potentially suxamethonium could induce massive potassium release.
THE HUMAN MANNEQUIN Channel 4, 9pm Eighteen-year-old Louise Wedderbun (above) faces an extra challenge as she tries to break into the competitive and often cut-throat fashion industry - she suffers from Fibrodysplasia Ossificans Progressiva (FOP), a rare genetic condition which causes her joints to lock as her muscles start to turn to bone.
Fibrodysplasia ossificans progressiva (FOP) [OMIM 135100] is a rare genetic disorder in which ossification of connective tissue leads to severe disability.
(6,12) The congenital type is seen in rare syndromes, including congenital plaque-like osteomatosis, Albright hereditary osteodystrophy, fibrodysplasia ossificans progressiva, and osseous heteroplasia.
Medici and his colleagues transferred the mutated gene that causes Fibrodysplasia Ossificans Progressiva (FOP), into normal endothelial cells.
As shown in cases with fibrodysplasia ossificans progressiva, the disruption of BMP signals can cause HO development (47).
At school, Jasmin cannot participate in sports, leaves class several minutes early to avoid being jostled in the hallways and must sit in a padded chair during class to avoid any injury that would cause a flare-up of her disease, fibrodysplasia ossificans progressiva.
Lucy, from Stourbridge, is one of only 30 people in Britain who suffers from Fibrodysplasia Ossificans Progressiva (FOP).
1), thermal injury, and a genetic disorder termed, fibrodysplasia ossificans progressiva. This is a rare disorder that is characterized by progressive ossification of soft tissues.