2. Etiology
๏ a rare congenital disorder of bone with
๏ an autosomal dominant hereditary
mode of inheritance with complete
penetrance, but variable expressivity
3. ๏ caused by mutation in the CBFA1gene
mapped on chromosome 6p21
๏ encoding transcription factor RUNX2
๏ responsible for osteoblast
differentiation
4. Clinical features
๏ Moderately short stature, and
๏ They tend to have a short head from
front to back (brachycephaly) and
๏ a prominent forehead (frontal bossing).
๏ delayed closure of fontanels, and some
adults with CCD have open fontanels.
๏ The eyes are widely spaced, and
๏ the nasal bridge is often flat.
5. ๏ one or both clavicles are frequently
partially or in 10% cases completely
absent.
๏ The neck appears long, and the
shoulders are narrow and down-
sloping
๏ hypermobility of shoulders with
tendency to approximate shoulders
anteriorly
6.
7.
8. Oral manifestations
๏ prolonged retention of deciduous
dentition and delayed eruption of
permanent teeth.
๏ Adults have mixed dentition in their
oral cavities.
๏ show a large number of unerupted
supernumerary teeth, often mimicking
a premolar.
9. ๏ Delayed and imperfect ossification of
the cranium,
๏ Maxilla is also underdeveloped along
with ill-formed paranasal sinuses.
๏ Skeletal Class III tendency /
mandibular prognathism in CCD->
uninterfered growth due to hypoplastic
maxilla and upward and forward
mandibular rotation.
13. Etiology
๏ SH3-binding protein SH3BP2 mapped
to 4p16.3, an important molecule in
cell signaling
๏ There is bone loss followed by the
accumulation of fibrous tissue that
causes facial swelling especially
around the cheeks, hence the
disease's name.
15. ๏ severe bone degradation of both the
upper and lower jaws beginning at
about age three.
๏ In adult life, complete involution of the
lesions
16. ๏ In some cases, the enlargement of the
floor of the orbit (the bones
surrounding the eye socket) causes
the eyeball to tip upward.
๏ The name derived from cherub
(angelic looking, as depicted in
Renaissance paintings)
20. HP
๏ The histology is limited for diagnosis,
showing fibrous hyperplasia and
multinucleated giant cells.
๏ similar to those other bone diseases
such as
๏ brown tumor of
hyperparathyroidism,
๏ giant cell tumor, and
๏ central and peripheral giant cell
granuloma
21. Lab diagnosis
๏ the bone markers
๏ phosphorous,
๏ serum calcium, and
๏ alkaline phosphatase are usually
at normal levels with respect to age.
22. ๏ cherubism may be associated with
other genetic diseases, such as
Noonanโs syndrome and Ramon
syndrome.
23. Treatment
๏ multinucleated cells in cherubic
lesions ->osteoclasts from a structural
and biochemical standpoint so
calcitonin is the treatment of choice.
25. Pathogenesis
๏ Paget disease occurs when there is a
disturbance in the bone remodeling
๏ that characteristically begins with
unwarranted bone resorption followed by an
increase in bone formation.
๏ This osteoclastic hyper activity followed by
substituted osteoblastic activity leads to the
formation of a structurally disordered mosaic
of bone which is still a woven bone,
๏ and which is mechanically larger, weaker,
more vascular, less compact, and more prone
to fracture than normal adult lamellar bone
27. Clinical features
๏ Age: occurs in the aging skeleton
๏ Sex:M=F
๏ Site skull, spine, pelvis, and long
bones of the lower extremity.
28. Presentation
๏ The bone pain is dull, constant,
boring, and deep below the soft
tissues.
๏ It may persist or exacerbate during the
night.
๏ Pathologic fractures commonly result
from weakened pagetic bone.
29. ๏ Nonspecific headaches,
๏ impaired hearing, and tinnitus commonly
result from skull involvement and
compression of the 8th cranial nerve
๏ The patient's hat size may increase (or,
less commonly, decrease) as a result of
skull enlargement or deformity.
๏ These may manifest as nausea,
dizziness, syncope, ataxia, incontinence,
gait disturbances, or dementia.
31. Oral manifestations
๏ Facial disfigurement and
malocclusion may be observed
following enlargement of the maxilla or
mandible.
๏ Tooth loss may occur with progressive
root resorption.
33. ๏ Both osteolysis (seen as radiolucency)
and excessive bone
formation(radiopacity) and a mixed state
occurs.
๏ There are specific X-ray features of
Paget's disease that include:
โฆ A classical V-shaped pattern between healthy
and diseased long bones known as 'the
blade of grass' lesion.
โฆ The 'cotton wool' pattern in the skull that is
also characteristic (multifocal sclerotic
patches).-osteitis circumscripta
34. HP
๏ woven bone and irregular broad
trabeculae with disorganized cement lines in
a mosaic pattern. Woven bone seperated by
reversal lines
๏ fibrous vascular tissue interspersed between
trabeculae
๏ profound bone resorption - numerous
large osteoclasts with multiple nuclei per cell
โฆ virus-like inclusion bodies in osteoclasts
โฆ Paget's osteoclasts larger, more nuclei than
typical osteoclasts
๏ Multinucleated giant cells-3-30 as opposed to
1-3 in normal osteoclasts
36. Lab investigations
๏ Bone-specific alkaline phosphatase
(BSAP) levels are raised.
๏ Urine hydroxyproline โ.
๏ Serum calcium, phosphorus, and
parathyroid hormone levels are
usually normal but immobilization may
lead to hypercalcaemia.