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OSTEOGENESIS
IMPERFECTA AND
OSTEOPOROSIS
OSTEOGENESIS
IMPERFECTA
 Comprises a heterogeneous group of heritable
disorders characterized by impairment of
collagen maturation.
 It arises due to mutations in one of two genes
that guide the formation of type 1 collagen : COL
1 A1 gene on chromosome 17 and COL 1 A2
gene on chromosome 7.
 Collagen forms a major portion of bone,
dentin,sclerae,ligaments and skin; osteogenesis
imperfecta demonstrate a variety of changes
that involve these sites.
CLINICAL FEATURES
 Extreme fragility and porosity of the bones, with
proneness to fracture.
 Some affected individuals also have blue sclera
, altered teeth , hypoacusis , long bone and
spine deformities , and joint hyperextensibility.
 Many patients also have a tendency towards
capillary bleeding.
Osteogenesis imperfecta
Opalescent dentin in patient with
osteogenesis imperfecta
CLASSIFICATION
 Based on Sillence et al classification, 4 types of
osteogenesis imperfecta exist –
1. TYPE 1 Osteogenesis imperfecta
2. TYPE 2 Osteogenesis imperfecta
3. TYPE 3 Osteogenesis imperfecta
4. TYPE 4 Osteogenesis imperfecta
TYPE 1 OSTEOGENESIS
IMPERFECTA
 Most common and mildest form.
 Symptoms include blue sclera , in utero
fractures in 10 % of patients , mild to moderate
bone fragility with frequency of fractures
decreasing after puberty , hearing loss , easy
bruising and short stature.
 It is an autosomal dominant trait.
TYPE 2 OSTEOGENESIS
IMPERFECTA
 Most severe form.
 Exhibits extreme bone fragility and frequent
fractures.
 In utero fractures are present in 100% of cases.
 Blue sclera may be present , hearing loss is not
common.
 Small nose, micrognathia and short trunk may
be present.
 Both autosomal recessive and dominant
patterns may occur.
TYPE 3 OSTEOGENESIS
IMPERFECTA
 Most severe form noted in individuals beyond
the prenatal period.
 Sclera of variable hue , limb shortening and
progressive deformities and pulmonary
hypertension.
 In utero fractures occur in 50% of cases.
 No hearing loss reported in this type.
 Both autosomal recessive and dominant
patterns may occur.
TYPE 4 OSTEOGENESIS
IMPERFECTA
 Associated with mild to moderately severe bone
fragility.
 Symptoms include normal sclera, normal
hearing, fractures that begin in infancy and mild
angulation and shortening of long bones.
 The frequency of fractures decreases with
puberty.
 This variant is an autosomal dominant trait.
RADIOGRAPHIC FEATURES
 The radiographic hallmarks of osteogenesis
imperfecta include osteopenia, bowing,
angulation or deformity of the long bones,
multiple fractures and wormian bones ( sutural
bones ) in the skull.
 Radiograph typically reveal premature pulpal
obliteration , although shell teeth rarely may be
seen.
Osteogenesis imperfecta
HISTOLOGIC FINDINGS
 The bone cortex is thin and porous. The bone
trabeculae are thin delicate and widely
separated.
 Osteoblastic activity appears retarded and
imperfect and for this reason the thickness of
long bone is deficient.
 Failure of woven bone to become transformed
to lamellar bone.
 Defective microvascular system and decreased
collagen fibril diameter have been observed.
Microscopic changes of OI
TREATMENT AND
PROGNOSIS
 There is no cure for OI, thus symptomatic
improvement is the primary goal of currently
available treatment options.
 The mainstays of treatment are
PHYSIOTHERAPY, REHABILITATION and
ORTHOPEDIC SURGERY.
 The prognosis varies from relatively good to
very poor.
Osteogenesis imperfecta
OSTEOPOROSIS
 Also known as – MARBLE BONE DISEASE ,
ALBERS-SCHONBERG DISEASE ,
OSTEOSCLEROSIS FRAGILIS
GENERALISATA.
 It is a rare hereditary bone disease of
heterogeneous pathophysiology in which failure
of osteoclastic bone resorption leads to
increased bone mass.
 A German radiologist, Albers- schonberg, first
described osteoporosis in 1904.
ETIOLOGY
 The primary underlying defect is failure of the
osteoclasts to resorb bone.
 Defective osteoclastic bone resorption ,
combined with continued bone formation and
endochondral ossification , results in thickening
of cortical bone and sclerosis of the cancellous
bone.
 Heterogeneous molecular or genetic defects
can result in impaired osteoclastic function.
CLINICAL FEATURES
 Three distinct forms of the disease are based on
age and clinical features – ADULT ONSET,
INFANTILE , and INTERMEDIATE.
 The infantile and intermediate types have an
autosomal recessive mode of transmission,
while adult onset type shows autosomal
dominant inheritance.
 If untreated, infantile type results in death by
first decade of life.
 Adult onset type are asymptomatic and have
good long term survival rates.
Osteogenesis imperfecta
INFANTILE OSTEOPOROSIS
 Also called MALIGNANT OSTEOPOROSIS.
 Diagnosed early in life.
 Failure to survive and growth retardation are
symptoms.
 Bony defects occur
 Nasal stuffiness due to mastoid and paranasal
sinus malformation is often the presenting
feature.
 Cranial nerve entrapment neuropathies occur.
 Manifestations include deafness, proptosis and
hydrocephalus.
 Dentition might be delayed.
 Bones are fragile and can fracture easily,
osteomyelitis of mandible is common due to
deficient blood supply.
 Patients might have anemia, easy bruising,
bleeding, recurrent infections,
hepatospleenomegaly, hypersplenism,
hemolysis, sleep apnea and blindness.
Osteogenesis imperfecta
Osteogenesis imperfecta
ADULT OSTEOPOROSIS
 Also called BENIGN OSTEOPOROSIS.
 Diagnosed in late adolescence or adulthood.
 Approximately one half of the patients are
asymptomatic and diagnosis is made
incidentally or is based on family history.
 Other patients might present with osteomyelitis
or fractures.
 Many patients have bone pain.
 Bones are fragile and might fracture easily.
 Bony defects are common and include cranial
nerve entrapment neuropathies and
osteoarthritis.
 40% of patients have recurrent fractures while
osteomyelitis of mandible occur in 10% of
patients.
 Other manifestations include visual entrapment,
hepatospleenomegaly, short stature, large head
and nystagmus.
RADIOGRAPHIC FEATURES
 Patients usually have generalized
osteosclerosis.
 The bones might appear club like or show an
appearance of a bone within bone.
 Vertebrae are extremely radiodense. They may
show alternating bands, known as the Rugger –
jersy sign.
 The entire skull is thickened and dense ,
especially at the base.
 The roots of the teeth often are difficult to
visualize because of the density of the
Osteogenesis imperfecta
HISTOPATHOLOGIC
FEATURTES
 Several patterns of abnormal endosteal bone
formation have been described.These include
the following –
 Tortuous lamellar trabeculae replacing the
cancellous portion of bone.
 Globular amorphous bone deposition in the
marrow spaces.
 Osteophytic bone formation.
 Numerous osteoclasts may be seen, but there is
no evidence that they function.
Osteogenesis imperfecta
TREATMENT AND
PROGNOSIS
 Calcitriol appears to help by stimulating dormant
osteoclasts and thus stimulating bone
resorption.
 Erythropoietin can be used to correct anemia.
 Corticosteroids have been used with the hope of
stimulating bone resorption and treating the
anemia.
 Treatment with gamma interferon has been
shown to produce long term benefits.
 No specific medical treatment exists for the
adult type.
Osteogenesis imperfecta

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Osteogenesis imperfecta

  • 2. OSTEOGENESIS IMPERFECTA  Comprises a heterogeneous group of heritable disorders characterized by impairment of collagen maturation.  It arises due to mutations in one of two genes that guide the formation of type 1 collagen : COL 1 A1 gene on chromosome 17 and COL 1 A2 gene on chromosome 7.  Collagen forms a major portion of bone, dentin,sclerae,ligaments and skin; osteogenesis imperfecta demonstrate a variety of changes that involve these sites.
  • 3. CLINICAL FEATURES  Extreme fragility and porosity of the bones, with proneness to fracture.  Some affected individuals also have blue sclera , altered teeth , hypoacusis , long bone and spine deformities , and joint hyperextensibility.  Many patients also have a tendency towards capillary bleeding.
  • 5. Opalescent dentin in patient with osteogenesis imperfecta
  • 6. CLASSIFICATION  Based on Sillence et al classification, 4 types of osteogenesis imperfecta exist – 1. TYPE 1 Osteogenesis imperfecta 2. TYPE 2 Osteogenesis imperfecta 3. TYPE 3 Osteogenesis imperfecta 4. TYPE 4 Osteogenesis imperfecta
  • 7. TYPE 1 OSTEOGENESIS IMPERFECTA  Most common and mildest form.  Symptoms include blue sclera , in utero fractures in 10 % of patients , mild to moderate bone fragility with frequency of fractures decreasing after puberty , hearing loss , easy bruising and short stature.  It is an autosomal dominant trait.
  • 8. TYPE 2 OSTEOGENESIS IMPERFECTA  Most severe form.  Exhibits extreme bone fragility and frequent fractures.  In utero fractures are present in 100% of cases.  Blue sclera may be present , hearing loss is not common.  Small nose, micrognathia and short trunk may be present.  Both autosomal recessive and dominant patterns may occur.
  • 9. TYPE 3 OSTEOGENESIS IMPERFECTA  Most severe form noted in individuals beyond the prenatal period.  Sclera of variable hue , limb shortening and progressive deformities and pulmonary hypertension.  In utero fractures occur in 50% of cases.  No hearing loss reported in this type.  Both autosomal recessive and dominant patterns may occur.
  • 10. TYPE 4 OSTEOGENESIS IMPERFECTA  Associated with mild to moderately severe bone fragility.  Symptoms include normal sclera, normal hearing, fractures that begin in infancy and mild angulation and shortening of long bones.  The frequency of fractures decreases with puberty.  This variant is an autosomal dominant trait.
  • 11. RADIOGRAPHIC FEATURES  The radiographic hallmarks of osteogenesis imperfecta include osteopenia, bowing, angulation or deformity of the long bones, multiple fractures and wormian bones ( sutural bones ) in the skull.  Radiograph typically reveal premature pulpal obliteration , although shell teeth rarely may be seen.
  • 13. HISTOLOGIC FINDINGS  The bone cortex is thin and porous. The bone trabeculae are thin delicate and widely separated.  Osteoblastic activity appears retarded and imperfect and for this reason the thickness of long bone is deficient.  Failure of woven bone to become transformed to lamellar bone.  Defective microvascular system and decreased collagen fibril diameter have been observed.
  • 15. TREATMENT AND PROGNOSIS  There is no cure for OI, thus symptomatic improvement is the primary goal of currently available treatment options.  The mainstays of treatment are PHYSIOTHERAPY, REHABILITATION and ORTHOPEDIC SURGERY.  The prognosis varies from relatively good to very poor.
  • 17. OSTEOPOROSIS  Also known as – MARBLE BONE DISEASE , ALBERS-SCHONBERG DISEASE , OSTEOSCLEROSIS FRAGILIS GENERALISATA.  It is a rare hereditary bone disease of heterogeneous pathophysiology in which failure of osteoclastic bone resorption leads to increased bone mass.  A German radiologist, Albers- schonberg, first described osteoporosis in 1904.
  • 18. ETIOLOGY  The primary underlying defect is failure of the osteoclasts to resorb bone.  Defective osteoclastic bone resorption , combined with continued bone formation and endochondral ossification , results in thickening of cortical bone and sclerosis of the cancellous bone.  Heterogeneous molecular or genetic defects can result in impaired osteoclastic function.
  • 19. CLINICAL FEATURES  Three distinct forms of the disease are based on age and clinical features – ADULT ONSET, INFANTILE , and INTERMEDIATE.  The infantile and intermediate types have an autosomal recessive mode of transmission, while adult onset type shows autosomal dominant inheritance.  If untreated, infantile type results in death by first decade of life.  Adult onset type are asymptomatic and have good long term survival rates.
  • 21. INFANTILE OSTEOPOROSIS  Also called MALIGNANT OSTEOPOROSIS.  Diagnosed early in life.  Failure to survive and growth retardation are symptoms.  Bony defects occur  Nasal stuffiness due to mastoid and paranasal sinus malformation is often the presenting feature.  Cranial nerve entrapment neuropathies occur.  Manifestations include deafness, proptosis and hydrocephalus.
  • 22.  Dentition might be delayed.  Bones are fragile and can fracture easily, osteomyelitis of mandible is common due to deficient blood supply.  Patients might have anemia, easy bruising, bleeding, recurrent infections, hepatospleenomegaly, hypersplenism, hemolysis, sleep apnea and blindness.
  • 25. ADULT OSTEOPOROSIS  Also called BENIGN OSTEOPOROSIS.  Diagnosed in late adolescence or adulthood.  Approximately one half of the patients are asymptomatic and diagnosis is made incidentally or is based on family history.  Other patients might present with osteomyelitis or fractures.  Many patients have bone pain.  Bones are fragile and might fracture easily.
  • 26.  Bony defects are common and include cranial nerve entrapment neuropathies and osteoarthritis.  40% of patients have recurrent fractures while osteomyelitis of mandible occur in 10% of patients.  Other manifestations include visual entrapment, hepatospleenomegaly, short stature, large head and nystagmus.
  • 27. RADIOGRAPHIC FEATURES  Patients usually have generalized osteosclerosis.  The bones might appear club like or show an appearance of a bone within bone.  Vertebrae are extremely radiodense. They may show alternating bands, known as the Rugger – jersy sign.  The entire skull is thickened and dense , especially at the base.  The roots of the teeth often are difficult to visualize because of the density of the
  • 29. HISTOPATHOLOGIC FEATURTES  Several patterns of abnormal endosteal bone formation have been described.These include the following –  Tortuous lamellar trabeculae replacing the cancellous portion of bone.  Globular amorphous bone deposition in the marrow spaces.  Osteophytic bone formation.  Numerous osteoclasts may be seen, but there is no evidence that they function.
  • 31. TREATMENT AND PROGNOSIS  Calcitriol appears to help by stimulating dormant osteoclasts and thus stimulating bone resorption.  Erythropoietin can be used to correct anemia.  Corticosteroids have been used with the hope of stimulating bone resorption and treating the anemia.  Treatment with gamma interferon has been shown to produce long term benefits.  No specific medical treatment exists for the adult type.