· syn. marble bone disease
· abnormally dense bones from disorder of osteoclasis
· two forms
· adult form
· relatively benign
· autosomal dominant
· infantile form
· more severe
· autosomal recessive
· diminished bone resorption due to osteoclast defect
· may be due to immune thymic defect
· bones exceedingly dense
· marrow spaces and foraminae encroached upon by bone
· bone fragile
· tongues of cartilage persist at sites of enchondral bone formation
· may project into metaphysis
· are calcified (cf. rickets)
· may be unaffected
· often chance diagnosis
· may see
· mild anaemia
· facial palsy
· deafness
· fractures
· prone to osteomyelitis after tooth extraction
· presents in infancy
· failure to thrive
· marrow failure
· easy bruising and bleeding
· pancytopaenia
· hepatosplenomegaly
· multiple fractures
· cranial nerve palsies
· esp. optic, facial
· death from repeated haemorrhage or overwhelming infection
· increased density of all bones
· widened cortices and narrow medullary cavity
· bone within bone appearance
· flask-shaped metaphyses
· sclerotic vertebral endplates
· produce striped appearance (rugger-jersey)
· skull thickened and sclerotic
· Henri Toulouse-Lautrec was sufferer
· characterised by
· shortness of stature
· frontal bossing
· underdevelopment of mandible
· x-rays show increased bone density
· may be confused with OI because of
· blue sclerae
· pathological fracture
· melorheostosis
· pain and stiffness in one limb
· x-rays show irregular patches of sclerosis
· in linear fashion through limb
· looks like wax on side of candle
· osteopoikilosis
· numerous white spots on x-rays of many bones
· may be whitish spots in skin
· osteopathia striata
· x-rays show lines of increased density parallel to shafts of long bones