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Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
Dysplasias of bone
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Dysplasias of bone

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  • 1. DYSPLASIAS OF BONE BY DR.YASSERA HAMEED RADIOLOGY S I R G A N G A R A M H O S P I TA L L A H O R E
  • 2.  Bone dysplasias are genetic disorders of the skeleton.  More than 300 different bone dysplasias are currently known.
  • 3. Bone dysplasias can cause dwarfism, brittle bones, leg and spine deformities and many other complications.
  • 4.  We study bone dysplasias to improve diagnosis and management of these rare disorders. In addition, bone dysplasias give the rare opportunity to study the impact of single genes on human bone and cartilage development.
  • 5.  The diagnosis of these lesions is mainly radiological and often entirely so.
  • 6.  Accurate diagnosis is of prime importance Genetic councelling is ,of course Well established speciality depending on accurate diagnosis
  • 7. DYSPLASIAS OF BONE PYKNODYSOSTOSIS OSTEOPETROSIS MELORRHEOSTOSIS OSTEOPOIKILOSIS
  • 8. PYKNODYSOSTOSIS
  • 9. also been named ToulouseLautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who suffered from the disease.
  • 10.  rare clinical entity,  an autosomal recessive osteochondrodysplasia,  usually diagnosed at an early age
  • 11.  With INCIDENCE estimated to be 1.7 per 1 million births.  Life expectancy for a Pycnodysostosis patient is normal.
  • 12.  a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K.
  • 13. cathepsin K.  Is important for osteoclasts,  to reabsorb the bone and build new bone
  • 14.  The normal functioning of osteoclasts in individuals with pycnodysostosis is disrupted by a lack of cathepsin K,  unable to adequately reabsorb the organic matrix.  This process, also called remodelling, is vital for normal bone maintenance.
  • 15.  The bones in individuals afflicted with pycnodysostosis are abnormally dense and brittle as a result of this insufficient reabsorption process.
  • 16.  Pycnodysostosis is characterised by
  • 17.  short STATURE,  fractures,  large head with frontal and parietal bossing,  Obtuse MANDIBULAR ANGLE, The typical 'open mouth outline ' facial appearance is due to frontal bossing, micrognatia, loss of the mandibular angle
  • 18.  prominent eyes with bluish sclerae,  underdeveloped facial bones,  Deficient growth of the maxilla and mandible makes normal tooth alignment impossible, with dental crowding, DENTAL ANOMALIES, persistence of deciduous teeth resulting a double row of teeth.
  • 19.  short, broad HANDS and feet with dystrophic nails and  acro-osteolysis of the terminal PHALANGES  TRUNK DEFORMITIES such as kyphosis, scoliosis, increased lumbar lordosis.
  • 20. Hands showing short, stubby, spoon shaped digits with dystrophic nails.
  • 21. pyknodysostosis RADIOLOGICAL FINDINGS
  • 22.  generalized sclerosis of the skeleton, including skull,
  • 23. The “babygram” demonstrates generalized sclerosis of the bones.
  • 24.      THE SKULL shows open anterior fontanelle and sutures small facial bones,hypoplastic maxilla. non-pneumatised paranasal sinuses flattened /obtuse mandibular angle . sclerosis being more pronounced in the periorbital region (“harlequin appearance” or “raccoon mask” sign),also calvarium and the base .
  • 25. obtuse angled mandible, open anterior and posterior fontanelle and non pneumatised sinuses.
  • 26. PA skull radiography generalized sclerosis more pronounced in the periorbital region (“harlequin appearance” or “raccoon mask” sign), open fontanelles and cranial sutures, absence of facial sinuses.
  • 27. Pycnodysostosis: Lateral skull radiograph, age 3 years. loss of the mandibular angle (arrow) and increased thickness of vault.
  • 28. Lateral skull film ; • wide sutures, •straightened angle of the mandible
  • 29. Panoramic radiography obtuse mandible angle, acute caries and malpositioned teeth.
  • 30. IN THE HAND ; terminal phalanges are partially or totally aplastic with loss of ungual tufts. THORAX  The acromial ends of the clavicles may be aplastic.
  • 31. Hand radiograph, age 3 years. acro-osteolysis in the distal phalanx of thumb and index fingers (arrows) and generalised increased bone density.
  • 32. PYKNODYSOSTOSIS clubbing of the terminal phalanges.
  • 33. LIMBS  Cortices—dense,  medullary canals are not completely oblitreated.  coxa valga and abnormal radioulnar articulation. SPINE failure of complete segmentation of the atlas, axis, and the lower lumbar spine,
  • 34. acroosteolysis hyperostosis with sparing of medullary cavity and normal bone age.
  • 35. PYKNODYSOSTOSIS 54-year-old man with pycnodysostosis subtrochanteric fracture of the right femur and a stress fracture in the left femur in the same region. Note that bones are sclerotic and medullary canal is visualized.
  • 36. PYKNODYSOSTOSIS typical facial features,, open fontenella,, high arched furrowed palate and radiological features including open cranial sutures, obtuse angle of mandible, generalized skeletal sclerosis.
  • 37. DDx Various bone diseases should be considered in the differential diagnosis of pyknodysostosis, particularly  cleidocranial dysostosis,  acroosteolysis,  osteogenesis imperfecta, and  osteopetrosis.
  • 38. pycnodysostosi cleidocranial s. dysostosis osteogenesis imperfecta osteopetrosis Small facial Mandible is bones,Mandib normal in size el has no angle.hypoplas tic maxilla history of frequent fractures normal stature, cranial nerve compression, Clavicle rarely affected clavicle is also involved, associated features choanal atresia , blue sclera. Skull dysplasia and hipoplasia of the distal phalanges ,not common autosomally recessive autosomal dominant inheritance
  • 39. OSTEOPETROSIS
  • 40. Osteopetrosis  AKA: Albers-Schönberg Disease = Marble Bone Disease
  • 41.  Rare hereditary disorder  Defective osteoclast function with failure of proper reabsorption produces sclerotic bone  Structurally weak
  • 42. TYPES(osteopetrosois) (1) AUTOSOMAL RECESSIVE TYPE i) Severe form (ARO): Also known as malignant osteopetrosis, usually results in stillbirth/early death. who survive present in early childhood with fractures, diffuse marrow space obliteration leading to pancytopaenia. ii) Intermediate severity form (IRO): (Infantile) with cerebral calcifications ("marble brain syndrome").
  • 43. Osteopetrosis in a neonate. Lateral skull radiograph shows sclerosis, most pronounced in the skull base with relative sparing of the mandible. The cervical vertebrae are also sclerotic.
  • 44. Neonate with typical features of autosomal recessive type of osteopetrosis. widened costo-chondral junctions; typical metaphyseal lucent bands and lost bony cortico-medullary differentiation.
  • 45. Dense sclerotic bones
  • 46. (2) BENIGN ADULT AUTOSOMAL DOMINANT TYPE i) type I sclerosis of the skul vault ii) type 2 sclerosis of the skull base and pelvis a typical "bone-within-bone" appearance of the vertebral bodies due to endplate sclerosis,,,RUGGER JERSEY SPINE. ("sandwich" spine"). (3) X-linked: Rare.
  • 47.  Benign adult autosomal dominant type  50% asymptomatic  Recurrent fractures  Mild anemia  Prognosis: normal
  • 48.  Benign adult autosomal dominant type  X-ray findings  Diffuse osteosclerosis  Cortical thickening with medullary encroachment  Erlenmeyer flask deformity = clublike long bones due to lack of tubulization + flaring of ends
  • 49.  Bone-within-bone appearance    (differentiates from other sclerosing dysplasias) maybe vertical-----in long bones,,shafts and digits transverse-------at metaphysis Arcuate------beneath the iliac crest
  • 50. "Sandwich“ vertebrae =alternating sclerotic + radiolucent transverse metaphyseal lines indicate fluctuating course of disease  Longitudinal  Mandible metaphyseal striations least involved
  • 51. a young woman with autosomal dominant osteopetrosis.----sclerosis and widening of the diploic space . The spine images show the classic sandwich vertebrae sign (the rugger jersey spine). The femur demonstrates increased sclerosis and an Erlenmeyer flask deformity.
  • 52.  One of the classical appearances of autosomal dominant osteopetrosis is the "bone within a bone" appearance .
  • 53. Inner layer of cortical new bone within the existing bone.
  • 54. Case 1 : Foot
  • 55. Osteopetrosis_____note inset of an earlier vertebral body Rugger jersey appearance
  • 56. Osteopetrosis_____note inset of an earlier vertebral body Rugger jersey appearance
  • 57. classic sandwich vertebrae of osteopetrosis (red arrows) thickening and sclerosis of the vertebral endplates, and of the bone adjacent to the endplates.
  • 58.  The tubular bones  may have an  Erlenmeyer flask type deformity.
  • 59.  An Erlenmeyer flask deformity refers to a radiographic appearance typically on a femoral radiograph where there is relative constriction of the diaphysis and flaring of the metaphysis.
  • 60. Erlenmeyer flasks
  • 61. Erlenmeyer flask deformity
  • 62. Erlenmeyer flask deformity
  • 63. Erlenmeyer flask deformity
  • 64. Erlenmeyer flask deformity
  • 65. Dense sclerotic bones with fracture
  • 66. Dense sclerotic bones with fracture
  • 67. OSTEOPETROSIS Complications:  Fractures (common because of brittle bones) with abundant callus + normal healing  Crowding of marrow ( anemia + extramedullary hematopoiesis)  Frequently terminates in acute leukemia  Rx: bone marrow transplant
  • 68.  DDx: Heavy metal poisoning  Melorheostosis (limited to one extremity)  Hypervitaminosis D  Pyknodysostosis  Fibrous dysplasia of skull / face 
  • 69. MELORHEOSTOSIS LERI’S DISEASE, FLOWING PERIOSTEAL HYPEROSTOSIS
  • 70. also known as Leri disease is a rare sclerosing bone dysplasia.
  • 71. The name is derived from the Greek words for  melos (limb),  rhein (flow)and  ostos (bone), due to its characteristic appearance of flowing hyperostosis.
  • 72. General Considerations  non-hereditary,  benign,  sclerosing mesodermal disease  with an incidence of 0.9 cases per million.
  • 73.  General Considerations  Cause is unknown  Produces thickening of the endosteum and periosteum  Peak age of presentation is 5-20 years
  • 74.  May be monostotic or polyostotic  May involve one entire limb  Usually does not involve multiple limbs  Twice as common in lower extremities than elsewhere
  • 75.  Clinical Findings  About 50% affected develop symptoms by age 20  Adults present with  Pain  Joint stiffness  Deformity that may progress over time  Children may present with  Leg length discrepancies  Joint contractures
  • 76. • predominantly affects the appendicular skeleton • is most common in the long bones of the upper and lower extremities, • can be seen in the hands and feet as well • It may affect a single bone (monostotic), a single limb (monomelic), or multiple bones (polyostotic).
  • 77. Photographs showing the swelling in the ring finger. A 16 year old female--- a 4 year history of progressively increasing swelling and intermittent dull ache in the ring finger of the right hand. no similar swelling in any other part of her body. no history of paraesthesia or restriction of movement. There were no similar complaints in the family
  • 78. A.P. and lateral Radiographs showing candle wax appearance in the proximal phalanx of ring finger Computed tomography of hand cortical hyperostosis with thickening resembling candle wax.
  • 79. Radiographic features Plain film Five patterns have been described 1.  Classic(Candle-wax appearance)  osteoma - like  myositis ossificans - like  osteopathia striata - like  mixed
  • 80. The dripping (or flowing) candle wax sign  is seen on conventional radiographs depicting bone. The appearance is that of irregular cortical hyperostosis, typically occurring on one side of the involved bone, and has been likened to melted wax flowing down one side of a candle.
  • 81.  Radiographically, the lesions show undulating cortical hyperostosis which has been likened to flowing candle wax.
  • 82.  The dripping candle wax sign  developmental error ---in intramembranous bone formation.  leads to an irregular thickening of cortical bone (cortical hyperostosis) that extends up to (but usually not past) the articular surface.
  • 83.  Pathologically— both overproduction of bone matrix and increased angiogenesis.  The DISTRIBUTION OF AFFECTED BONE is thought to be due to the predilection of melorheostosis to occur in sclerotomes (skeletal regions innervated by a single spinal sensory nerve).
  • 84.  Classical appearances of melorheostosis
  • 85. Classical appearances of melorheostosis involving the right fibula and lateral side of the foot. AP radiograph ; dense cortical and extra-cortical bone formation (white arrows) along the length of the distal fibula to the lateral malleolus with associated hyperostosis in the lateral hind foot bones (black arrows).
  • 86. Frontal radiographs of the hand ; undulating cortical hyperostosis representing the classical "candlewax" dripping appearance involving only the radial side of the 3rd metacarpal shaft.
  • 87. oblique radiographs
  • 88. Cortical lesions are progressive and may result in narrowing of the medullary canal and stenosis of an adjacent lumen, foramen, or of the spinal canal. Radiographically, the lesions show undulating cortical hyperostosis which has been likened to flowing candle wax.
  • 89. Melorheostosis in the ribs with typical candle wax appearance.
  • 90. The Dripping Candle Wax Sign
  • 91.  CT scan will show clear demarcation between normal and abnormal bone . CT scan is helpful to confirm or exclude continuity of osseous and soft tissue abnormalities [7].
  • 92. Noncontiguous transverse CT images through eighth (left) and ninth (right) right posterior ribs of patient in Figure 1 show sharp delineation between normal and affected bone segments (arrows), highlighting sclerotomal distribution.
  • 93. melorrheostosis  Osteoma-like appearance.
  • 94. Osteoma-like appearance. Anteroposterior radiograph of the right ilium showing an irregular area of medullary hyperostosis (arrows).
  • 95. melorrheostosis  Myositis ossificans-like pattern.
  • 96. Myositis ossificanslike pattern. A P radiograph of the right elbow shows dense, lobular, soft-tissue mineralisation (arrows) adjacent to the radial head.
  • 97. melorrheostosis  Osteopathia striata-like pattern.
  • 98. Osteopathia striata-like pattern. AP radiograph right knee demonstrates longitudinal, dense bandlike areas of increased intramedullary density (arrows). Note also the softtissue mineralization.
  • 99.  MR imaging shows heterogeneous signal intensity due to mixture of osseous, fibrous, adipose and cartilaginous tissue which these lesions contain
  • 100. (a) MRI appearances. Sagittal, T2*-weighted, gradient echo image of the knee showing multiple areas of intramedullary signal void (arrows). Note the absence of patella as patellectomy was performed for severe pain. (b) Plain radiograph in the same patient showing the area of sclerosis seen as the signal void lesions on the MRI.
  • 101.  Patients with meloreostosis may have associated         cutaneous and soft tissue lesions such as vascular malformations, neurofibromatosis, hemangioma, arterial aneurysms, linear scleroderma, tuberous sclerosis, hemangiomas, and focal subcutaneous fibrosis.
  • 102.  Not infrequently features of melorheostosis, osteopathia striata and osteopoikilosis may co-exist in so-called OVERLAP SYNDROMES. These conditions may share an underlying aetiology 1.
  • 103.  Differential Diagnosis  Osteopathia striata  Longitudinal dense striations  Osteopoikilosis  Punctate, rounded bone islands surrounding joints,symmetrical involvement, absence of soft tissue involvement, negative scintigraphy, no clinical complaints and autosomal dominancy  Osteosarcoma  Bone destruction
  • 104.  Nuclear medicine  Increase in radiotracer uptake is usually present on late phase bone scans 2.
  • 105.  reatment  Analgesia  Nerve blocks  Surgery directed at relieving contracture
  • 106.  Complications  Associated soft tissue lesions and cutaneous lesions  Vascular malformations  Neurofibromatosis  Tuberous sclerosis  Hemangioma  Muscle contractures  Scoliosis
  • 107. Prognosis  Progressive disorder
  • 108.  In conclusion,  radiographs are diagnostic for melorheostotic lesions.  MR imaging is useful to detect the presence and extent of associated mineralized and nonmineralised soft tissue masses and may obviate unwarranted biopsy and a radical procedure.
  • 109. OSTEOPOIKILOSIS
  • 110.  Osteopoikilosis is a benign, asymptomatic sclerosing     dysplasis.Affects both M and F. May be seen at any age. Cutaneous lesions in 25%. Etiology unknown. Inherited and spontaneous cases occur.
  • 111.  RADIOGRAPHICALLY,  Sclerotic circular or ovoid lesions symmetrically distributed in a periarticular location.  Lesions can increase or decrease in size and number in serial radiographs or even disappear.  Lesions do not have increased bone radiotracer uptake.
  • 112. multiple circular and ovoid sclerotic opacities appear to be parallel each other and to the long axis of the bone. A periarticular distribution
  • 113. The main clinical significance is that these may be mistaken for sclerotic metastases. their classic distribution and appearance will distinguish them readily from evil entities like mets. osteopoikilosis of the pelvis and proximal femurs
  • 114.  May be related to other sclerosing dysplasias including,Osteopathia striata.  melorheostosis.  focal sclerosis.  and when seen in combination with them, is termed "MIXED SCLEROSING BONE DYSTROPHY."
  • 115.  DDx includes:Osteoblastic metastases.  Mastocytosis.  Tuberous Sclerosis.
  • 116. THANK YOU

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