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BONES AND MUSCLES

BONES AND MUSCLES. ROBERTO D. PADUA JR., MD, DPSP DEPARTMENT OF PATHOLOGY FATIMA COLLEGE OF MEDICINE. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS. CHONDRODYSPLASIAS Abnormalities in the size and shape of bones Disproportionate shortness in stature Named after the part of the bone affected

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BONES AND MUSCLES

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  1. BONES AND MUSCLES ROBERTO D. PADUA JR., MD, DPSP DEPARTMENT OF PATHOLOGY FATIMA COLLEGE OF MEDICINE

  2. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • CHONDRODYSPLASIAS • Abnormalities in the size and shape of bones • Disproportionate shortness in stature • Named after the part of the bone affected • Other names refer to the appearance of the bone • Diastrophic (twisted) • Thanatophoric (death-bearing) • Metatropic (changing) • Family history of disease is obligatory • Radiologic appearance can be confused with other metabolic bone diseases • Serum levels of biochemical markers are normal • Bone is well mineralized

  3. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 1. ACHONDROPLASIA • Most common cause of disproportionately short stature • 1 of 40,000 live births, autosomal dominant • Head is large, frontal region is protuberant, nasal bridge is depressed • Lordosis and lumbar kyphosis are present • Anteroposterior flattening of the pelvic inlet • Failure of normal endochondral ossification at the level of the proliferating and maturing cartilage

  4. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 2. ACHONDROGENESIS • Affected infants are either stillborn or do not survive the immediate neonatal period • 2 syndromes • a) Achondrogenesis I (Parenti-Fraccaro) • Associated with congenital heart defects • No ossification in the skull & vertebral bodies • b) Achondrogenesis II (Langer-Saldino) • Shortened limbs & disproportionately large head • Underdeveloped ossification centers in the vertebral bodies and pelvis • Epiphyseal cartilage is lobulated with increased vascularity • Completely disorganized endochondral ossification of the growth plate and there is no column formation

  5. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 3. THANATOPHORIC DYSPLASIA • Infants are either stillborn or die of respiratory distress during the neonatal period • Pattern of inheritance is unknown • Length of trunk is normal but the head is large with cranio-facial disproportion • Common CVS and CNS anomalies • Pronounced platyspondyly of the lumbar vertebrae with an inverted U appearance • Curvature of femurs with medial and lateral spikes at their lower ends; short, flared ribs • Endochondral ossification is disrupted at the growth plate, no regular column formation

  6. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 4. CHONDROECTODERMAL DYSPLASIA • Also known as Ellis-van Creveld syndrome • Short limb dwarfism • Consanguity is an important factor in the etiology of the disease • Clinical presentation: • Narrowing of rib cage • Congenital heart disease • Ectodermal abnormalities • Acromegalic micromelia (shortening of the distal segment of the limb

  7. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 5. ASPHYXIATING THORACIC DYSPLASIA • Jeune’s syndrome • Narrowing of the chest and immobility • Stippled epiphyses and chondroplasia punctata are striking features on x-ray

  8. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 6. OSTEOPETROSIS • Marble bone disease • Defective osteoclast function that impairs skeletal resorption • Primary spongiosa persists during adult life • Increased incidence of parental consanguity • Early symptom is malformation of mastoid and paranasal sinuses • Pathognomonic histologic finding is the failure of osteoclast to resorb skeletal tissue

  9. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 7. PROGRESSIVE DIAPHYSEAL DYSPLASIA • Camurati-Engelman disease • Rare autosomal dominant disorder • Formation of new bone at both the periosteal and endosteal surfaces

  10. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 8. ENDOSTEAL HYPEROSTOSIS • Van Buchem disease • Autosomal dominant/recessive disorder • Progressive enlargement of mandible during puberty • Radiographic feature: dense and homogenous diaphyseal cortex with narrowing of the medullary canal

  11. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 9. OSTEOPOIKILOSIS • Presence of numerous foci of sclerosis in cancellous bone (“spotted bones”) • Autosomal dominant disorder • Bone changes are asymptomatic • Found incidentally on radiographs

  12. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 10. OSTEOPATHIA STRIATA • Characterized by linear striations at the ends of long bones and in the ilium • X-ray shows gracile linear striations in the cancellous region of the skeleton • Autosomal dominant trait

  13. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 11. MELORHEOSTOSIS • Characterized by hyperostosis of the limb bones • X-ray : likened to appearance of melted wax that is dripped down the side of the candle • Typical histologic finding is endosteal thickening

  14. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 12. PACHYDERMOPERIOSTOSIS • Hypertrophic osteoarthropathy • Characterized by clubbing of digits, hyperhidrosis, thickening of skin around the face and forehead and periosteal new bone formation in the distal limbs • Inherited as autosomal dominant trait • Men>women • X-ray shows thickening and sclerosis of the distal portions of the tubular bones

  15. SKELETAL DEVELOPMENTAL AND GENETIC DISORDERS • 13. OSTEOGENESIS IMPERFECTA • “Brittle bone disease” • Hereditary disorder involving defects in the synthesis or structure of collagen type I • Cardinal features : osteopenia associated with recurrent fracture and skeletal deformity • Biochemical findings : increased AP, increased level of hydroxyproline, hypercalciuria • Histology : abnormal skeletal matrix; cartilaginous bars formed by vascular invasion of the metaphyses do not become envelop by bones; cortical bone is almost non-existent

  16. METABOLIC BONE DISEASES • 1. OSTEOPOROSIS • Loss of normally minerralized bone • Diagnosed clinically with non-invasive radiographic techniques that measures bone density • Changes in the bone : • Structurally weak • Loss of trabecular bone • Enlargement of the medullary space • Cortical porosity • Reduction in cortical thickness

  17. METABOLIC BONE DISEASES • 2. RENAL OSTEODYSTROPHY • Seen in patients with advanced renal failure • Clinical presentations : • Bone pain (most common), spontaneous fractures, aseptic necrosis of hip, myopathy • Laboratory findings : • Low levels of 1;25(OH)2D3, hyperphosphatemia, hypocalcemia, alterations in the secretion or activity of PTH • X-ray : • Subperiosteal erosions, patchy osteosclerosis (“rugger jersey” appearance of thoracic vertebral spine on lateral views, “salt and pepper” appearance of skull, slipped epiphyses

  18. METABOLIC BONE DISEASES • 3. OSTEOMALACIA • Defective mineralization of the trabecular and cortical bone matrix • Associated with decreased serum calcium phosphate product • A common complication of chronic renal failure in adults • Secondary to Vitamin D deficiency • Histologically characterized by excessive quantities of osteoid because of the failed matrix calcification despite continued matrix synthesis by the osteoblasts

  19. METABOLIC BONE DISEASES • 4. RICKETS • Defective mineralization of the epiphyseal growth plate cartilage • Clinical features : craniotabes, frontal bossing, rachitic rosary, pectus excavatum, “Harrison’s groove”, thoracic kyphosis, rachitic potbelly, genu varum/genu valgum • Histologic appearance : • Rachitic growth plate is wide and irregular • Columnar rearrangement of the hypertrophic chondrocyts is lost • Zone of provisional calcification disappears • Cartilage extends deep into the metaphyses

  20. TRAUMA • FRACTURE REPAIR • Blastema  wound closure  scar formation • Initial repair tissue formed is called a CALLUS which is composed of fibrous tissue, woven bone and cartilage • 3 phases of fracture healing : • A) inflammatory phase • B) reparative phase = orderly removal and replacement of immature woven bone by cartilage differentiation • C) modeling phase = realignment & mechanical shaping of the bone and callus; restoration of the medullary cavity and bone marrow • Complications of fracture healing : • A) nonunions • B) fibrous union

  21. INFLAMMATORY BONE DISORDERS • OSTEOMYELITIS • Classified according to several factors • 1. its duration = acute, subacute or chronic • 2. nature of the exudate = hemorrhagic, purulent, or nonsuppurative • 3. its location = bone, periosteum, or epiphyses • 4. etiologic agent = Staphylococcus, Tb, etc. • Histologically, inflammatory cells are seen • Loss of normal marrow architecture • Hematopoietic elements and fat are replaced by leukocytic infiltrates

  22. INFLAMMATORY BONE DISEASES • OSTEOMYELITIS….. • “Chronic sclerosing osteomyelitis of Garre” • A chronic form of osteomyelitis with findings of dense, scarred bone and few clinical symptoms without any abscess formation. • “Brodies abscess” • Osteomyelitis sharply limited to one side with formation of abscess cavity surrounded by a rim of sclerotic bone. • Causes: • Coagulase (+) Staph. Aureus (60-90%) • Strep, Pneumococcus, E. coli, Klebsiella, Salmonella, Bacteroides

  23. INFLAMMATORY BONE DISEASES • OSTEOMYELITIS….. • Causes : • Tuberculosis • Spread hematogenously • Characteristic lesion : Chronic caseating granulomatous inflammation which often involves the subchondral part of the joint. Sequestrum forms in the subchondral bone and articular cartilage resulting in a “kissing sequestrum”. • Pott’s disease – Tb of the spine

  24. OSTEOMYELITIS X-RAY GROSS : UPPER FEMUR

  25. INFLAMMATORY BONE DISEASES • SARCOIDOSIS • Noncaseating granulomatous process • Manifest as small lytic and sclerotic foci in the bones of the hand • Large areas of destruction are not typically found

  26. INFLAMMATORY BONE DISEASES • PAGET’S DISEASE OF BONE (OSTEITIS DEFORMANS) • A chronic osteolytic and osteosclerotic disease of uncertain cause • May involve one or more bones • Presents with pain, skeletal deformities, and occasionally sarcomatous transformation • Usually affects 3% of white population over 40 y/o • Incidence increases with age; men>women • Most patients are asymptomatic (80-90%)

  27. INFLAMMATORY BONE DISEASES • PAGET’S DISEASE OF BONE….. • Common skeletal sites of involvement are the sacrum, spine, pelvis, skull, femur, clavicle, tibia, ribs, and humerus • Histopathology: • Normal marrow is replaced by a richly vascular, loose fibrous connective tissue • Isolated clusters of inflammatory cells may be seen • Osteoclasts aggregate on the existing bone trabeculae and within the cortex • Innumerable small, irregularly shaped bone fragments (mosaic pattern) • Grossly resembles the gritty but brittle texture of pumice or lava rock

  28. INFLAMMATORY BONE DISEASES • PAGET’S DISEASE OF BONE…. • X-RAY : flocculant, radiopaque deposit likened to cotton wool. Pelvis is the most common site of involvement. • Elevated AP and osteocalcin level • Elevated urinary excretion of hydroxyproline, pyridinoline and deoxypyridinoline • Malignant transformation are also observed • Osteosarcomas • Fibrosarcomas • Giant cell malignant fibrous histiocytoma

  29. PAGET’S DISEASE OF BONE EARLY CHANGES SHOWING PROMINENT OSTEOCLASTIC ACTIVITY X-RAY OF TIBIA SHOWING BONE DESTRUCTION AND BONE FORMATION

  30. DEGENERATIVE DISEASES OF BONE • OSTEONECROSIS • Infarction of bone typically involving the femoral head • 3 generic categories = postfracture, idiopathic, and renal transplant associated • Also known as “avascular necrosis of bone” • Earliest histologic changes are death of the bone and the surrounding hematopoietic & fatty marrow • X-ray : “Crescent sign” , a separation of fracture cleft forms between the impacted fragments and the overlying subchondral plate. Increased density within the necrotic bone.

  31. BONE TUMORS • Most malignant tumors arise de novo • Benign bone lesions that predispose to the development of skeletal malignancies • Paget’s disease, chondromatosis, osteochondromatosis, fibrous dysplasia, and osteofibrous dysplasia • Five basic parameters in the diagnosis of bone tumors • Age of the patient • Bone involved • Specific area within the bone • Radiographic appearance • Microscopic appearance

  32. BONE FORMING TUMORS • 1. OSTEOMA • Seen almost exclusively in the flat bones of skull and face • Microscopically: composed of dense, mature, predominantly lamellar bone • Benign • Associated with Gardner’s syndrome

  33. BONE-FORMING TUMORS • 2. OSTEOID OSTEOMA • Benign neoplasm seen in patients between 10 and 30 y/o • 2:1 male-female ratio • Intense pain is the most prominent symptom • Reported in practically every bone, most are centered in the cortex (85%), spongiosa (13%), or subperiosteal region (2%) • X-ray: typical finding is a radiolucent nidus that is seldom larger than 1.5 cm and may or may not contain a dense center. This nidus is surrounded by a peripheral sclerotic reaction. • Microscopic: sharply delineated central nidus composed of more or less calcified osteoid lined by plump osteoblast and growing within vascularized connective tissue, without evidence of inflammation.

  34. OSTEOID OSTEOMA MICROSCOPIC GROSS X-RAY

  35. BONE-FORMING TUMORS • 2. OSTEOBLASTOMA • Benign osteoblastoma, giant osteoid osteoma • Closely related to osteoid osteoma both microscopically and ultrastructurally • It has a larger size of the nidus, absence of surrounding area of reactive bone formation, and the lack of intense pain • A cartilaginous matrix is present in some cases • Most cases arise in the spongiosa of the bone involving the spine or major bones of the lower extremity • Osteomalacia can be seen as a complication

  36. BONE-FORMING TUMORS • 3. OSTEOSARCOMA • The most frequent primary malignant tumor, exclusive of hematopoietic malignancy • Usually occurs in patients between 10 and 25 years of age and is rare in pre-school children • Another peak age incidence occurs after the age of 40, in association with other disorders • Most osteosarcomas arise de novo, but others arise within the context of a preexisting condition • Paget’s disease, radiation exposure, chemotherapy, preexisting benign bone lesions, foreign bodies, trauma

  37. BONE-FORMING TUMORS • OSTEOSARCOMA….. • Located in the metaphyseal area of long bones, particularly the lower end of femur, upper end of the tibia, and the upper end of the humerus • Large majority arise within the medullary cavity from which they extend into the cortex • Gross appearance varies depending on the relative amounts of bone, cartilage, cellular stroma and vessels  bony hard to cystic, friable, and hemorrhagic • From its usual origin in the metaphysis of a long bone, the tumor may spread along the marrow cavity, invade the adjacent cortex, or elevate or perforate the periosteum (Codman’s triangle)

  38. BONE-FORMING TUMORS • OSTEOSARCOMA….. • Extend into the soft tissues, extend into the epiphysis, extend into the joint space, form satellite nodules independent from the main tumor mass proximal to the primary lesion (“skip metastases”), metastasize through the blood stream to distant sites particularly the lung.

  39. BONE-FORMING TUMORS • OSTEOSARCOMA….. • Microscopic features • May destroy preexisting bone trabeculae or grow around them in an appositional fashion • Key feature is the presence of osteoid and or bone produced directly by tumor cells without interposition of cartilage • Osteoblastic areas are often mixed with fibroblastic and chondroblastic foci • Tumor cells may grow in diffuse, nesting or pseudopapillary arrangements

  40. BONE-FORMING TUMORS • OSTEOSARCOMA….. • OS cells usually exhibit strong AP activity, regardless of their appearance • Ultrastructurally, tumor cells resemble normal osteoblasts • Consistently expresses Vimentin • In some cases, they are positive for smooth muscle actin, desmin, EMA, S-100 protein • Osteonectin, osteocalcin, osteopontin bone morphogenetic protein and bone GLA protein have been identified immunohistochemically

  41. BONE-FORMING TUMORS • OSTEOSARCOMA….. • Microscopic variants • Telangiectatic • Small cell • Fibrohistiocytic • Anaplastic • Well-differentiated intramedullary • Others = parosteal (juxtacortical), periosteal

  42. OSTEOSARCOMA GROSS SHOWING SKIP METASTASIS MICROSCOPIC APPEARANCE

  43. OSTEOSARCOMA TELANGIECTATIC VARIANT OF OSTEOSARCOMA

  44. OSTEOSARCOMA JUXTACORTICAL OSTEOSARCOMA

  45. BONE-FORMING TUMORS • OSTEOSARCOMA….. • Diagnosis: characteristic radiographic appearance, open biopsy, needle biopsy, FNAB, frozen section. • Therapy: amputation or disarticulation. At present, limb-sparing procedures coupled with other therapeutic modalities. • Prognosis: • Poor : presence of Paget’s disease, multifocal OS, chondroblastic type, Telangiectatic variant, elevated AP, low postchemotherapy tumor necrosis, loss of heterozygosity of the RB gene, HER2/neu expression, expression of P-glycoprotein

  46. CARTILAGE-FORMING TUMORS • 1. CHONDROMA • A common benign cartilaginous tumor that occurs most frequently in the small bones of the hands and feet, particularly the proximal phalanges • 30% are multiple • Microscopically, they are composed of mature hyaline cartilage. Foci of myxoid degeneration, calcification, and endochondral ossification are common • Enchondromas begins in the spongiosa of the diaphysis from which they expand and thin out the cortex • Lesions with predominantly unilateral distribution are referred to as Ollier’s disease • Its association with soft tissue hemangiomas is known as Maffucci’s syndrome

  47. CHONDROMA MICROSCOPIC X-RAY GROSS

  48. CARTILAGE-FORMING TUMORS • 2. OSTEOCHONDROMA • Most frequent benign tumor • Usually asymptomatic, but may lead to deformity or interfere with the function of adjacent structures such as tendons and blood vessels • Most common locations are metaphyses of the lower femur, upper tibia, upper humerus and pelvis • Average age of onset is 10 y/o, majority appears before the age of 20 • Average greatest diameter is 4 cm but may reach 10 cm or more • A cap of cartilage covered by fibrous membrane continous with the periosteum of the adjacent bone • Microscopically, the cells resemble those of normal hyaline cartilage. Eosinophilic, PAS-(+) inclusions may be seen in the cytoplasm. The bulk of the lesion is composed of mature bone trabeculae located beneath the cartilaginous cap and containing normal bone marrow.

  49. OSTEOCHONDROMA MICROSCOPIC GROSS, CUT SECTION

  50. CARTILAGE-FORMING TUMORS • 3. CHONDROBLASTOMA • Occurs predominantly in males under 20 y/o • Usually arises in the epiphyseal end of long bones before the epiphyseal cartilage has disappeared, particularly in the distal end of femur, proximal end of humerus, and proximal end of tibia • X-ray: tumor is fairly well delimited and contains areas of rarefaction • Microscopic: • the basic tumor cell is an embryonic chondroblast with only a limited capacity for the production of cartilaginous matrix. • Presence of occasional scattered giant cells

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