Stone man syndrome | definition of Stone man syndrome by Medical dictionary
fibrodysplasia ossificans progressiva (redirected from Stone man syndrome)
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
Millie is one of just 40 people in the UK and 700 across the globe with fibrodysplasia ossificans progressiva, or stone man syndrome
For five years she has been battling fibrodysplasia ossificans progressiva, known as FOP or stone man syndrome
com/team/climbingforacure Stone man syndrome
FOP (fibrodysplasia ossificans progressiva) is some-times called stone man syndrome
and is a genetic mutation of the body's repair mechanism.