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.

fibrodysplasia ossificans progressiva

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 ?
The genetics of fibrodysplasia ossificans progressiva.
Contrast-Enhanced MRI of an Early Preosseous Lesion of Fibrodysplasia Ossificans Progressiva in a 21-Month-Old Boy.
Fibrodysplasia ossificans progressiva in South Africa: difficulties in management in a developing country.
Fibrodysplasia ossificans progressiva means "soft connective tissue that progressively turns to bone.
Their son had incurable fibrodysplasia ossificans progressiva.
Scientists announced the discovery of a gene that causes fibrodysplasia ossificans progressiva, or FOP, a disease that turns muscle and tendons into bone.
Louise was born with Fibrodysplasia Ossificans Progressiva (FOP), a condition caused by a rogue gene.
This is the earliest clinical description of fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder that causes bone to form in muscles, tendons, ligaments and other connective tissues.
Fibrodysplasia Ossificans Progressiva (FOP) is an incredibly rare genetic disorder which turns muscles to bone, leaving its victims, of which there are only 2,500 worldwide, crippled.
Fibrodysplasia ossificans progressiva (FOP), which affects fewer than 1,000 people worldwide, is a horrific genetic disease in which acute inflammation causes soft tissue to morph into cartilage and bone.
The topper, though, was "stone man syndrome", or fibrodysplasia ossificans progressiva.
4) Finally, many systemic diseases can lead to auricular ossification, including congenital plaque-like osteomatosis, Albright hereditary osteodystrophy, fibrodysplasia ossificans progressiva, Addison disease, osseous heteroplasia, and collagen vascular diseases, especially CREST syndrome and childhood dermatomyositis.