Bones,joints and soft tissue tumors
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Transcript of Bones,joints and soft tissue tumors
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1BONES, JOINTS AND SOFT TISSUE TUMORS
QURATULAIN MUGHALBATCH IVDOCTOR OF PHYSICAL THERAPYISRA UNIVERSITY
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CONTENTS
BONES
•CONGENITAL DISORDERS OF BONE AND CARTILAGE•ACQUIRED DISEASES OF BONE •FRACTURES•OSTEONECROSIS•OSTEOMYELITIS•BONE TUMORS
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CONGENITAL DISORDERS •also known as a congenital disease,
deformity, birth defect, or anomaly.•It is a condition existing at or before birth
regardless of cause.
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DYSOSTOSES:•It is a localized problem resulting from
mesenchymal cells migration and formation of condensation.
•May affect individual or group of bones.•Can result from mutations in specific
homeobox genes(a DNA sequence, around 180 base pairs long, found within genes).
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EXAMPLES1. APLASIA: congenital absence of digit or
rib2. FORMATION OF EXTRA BONE:
supernumerary digit or ribs3. ABNORMAL FUSION OF BONE:
premature closure
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DYSPLASIA•Mutations that interfere with bone and
cartilage formation, growth or/and maintenance of normal matrix
•Osteodysplasia•Chondrodysplasia
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CONGENITAL
DISORDERS OF BONE
AND CARTILAGE
•OSTEOGENESIS IMPERFECTA•ACHONDROPLASIA AND THANATOPHORIC DWARFISM•OSTEOPETROSIS
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OSTEOGENESIS IMPERFECTA•OI is also known as “brittle bone disease”•Is actually a group of genetic disorders
caused by defective synthesis of type I collagen.
•Because type I collagen is a major component of extracellular matrix in other parts of the body, there are also numerous extraskeletal manifestations(affecting skin, joints, teeth, eye etc).
•The fundamental abnormality in all forms of OI is too little bone, resulting in extreme fragility.
•Hearing loss and small misshapen teeth are results of this.
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ACHONDROPLASIA DWARFISM•"without cartilage formation."•Is the most common form of dwarfism.•Achondroplasia is caused by a mutation in
fibroblast growth factor receptor 3 (FGFR3).
• In normal development FGFR3 has a negative regulatory effect on bone growth. In achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones.
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THANATOPHORIC DWARFISM• Thanatophoric means “ death-loving”• is a severe skeletal disorder characterized by
extremely short limbs and folds of extra (redundant) skin on the arms and legs.
• Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.
• Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.
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OSTEOPETROSIS•literally "stone bone", also known as
marble bone disease.•Is a group of rare genetic disorders
characterized by defective osteoclast-mediated bone resorption.
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ACQUIRED DISEASES OF BONE •acquired disorder is a medical condition
which develops post-fetally.• is a non-heritable change in a function or
structure•caused after birth by disease, injury,
accident, deliberate modification, repeated use, disuse, or misuse, or other environmental influences.
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ACQUIRED
DISEASES OF BONE
• OSTEOPOROSIS• PAGET DISEASE• RICKETS & OSTEOMALACIA
• HYPERPARATHYROIDSM
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OSTEOPOROSIS•Is an acquired condition characterized by
reduced bone mass, leading to bone fragility and susceptibility to fracture.
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PAGET DISEASE• Also called as osteitis deformans.• This is unique skeletal disease is characterized by
repetitive episodes of frenzied, regional osteoclastic activity and bone resorption (osteolytic stage) , and finally by an apparent exhaustion of cellular activity (osteoclerotic stage).
• The net effect of this process is an gain in bone mass; however, the newly formed bone is disordered and weak, so the bone become enlarged and misshapen.
• The Paget disease usually presents in mid to late adulthood.
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RICKETS & OSTEOMALACIA
•Both are manifestation of vitamin D deficiency or its abnormal metabolism.
•Rickets refers to the disorders in the children, in interferes with the deposition of bone in the growth plates.
•Osteomalacia is the adult counterpart, in which bone formed during the remodeling is unmineralized, result in predisposition to fractures.
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HYPERPARATHYROIDSM
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FRACTURES•Any discontinuity in bone normal
alignment.
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OSTEONECROSIS•also known as Avascular necrosis,
Aseptic necrosis and ischemic necrosis.•A disease caused by reduced blood flow to
bones in the joints.
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OSTEOMYELITIS
•inflammation of bone or bone marrow, usually due to infection.
•subclassified on the basis of the causative organism (pyogenic bacteria or mycobacteria).
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PYOGENIC OSTEOMYELITIS•Acute osteomyelitis is an inflammation of
bone caused by an infecting organism.•Staphylococcus aureus is the most
common bacterium involved in the infection.
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TUBERCULOUS OSTEOMYELITIS•Tuberculous osteomyelitis of the bone is
secondary hematogenous spread from a primary source in the lung or GI tract.
•It most commonly occurs in the vertebrae (body) and long bones.
•Tuberculous osteomyelitis involves mainly the thoracic and lumbar vertebrae (known as Pott disease) followed by knee and hip.
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BONE TUMORS
•BONE-FORMING TUMORS•CARTILAGE-FORMING TUMORS•FIBROUS AND FIBROOSSEOUS TUMORS•MISCELLANEOUS BONE TUMORS
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BONE-FORMING TUMORS
OROSTEOGENIC
•Osteoma•Osteoid osteoma•Osteoblastoma•Osteosarcoma
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1) OSTEOMA •Seen in middle aged adults.•Usually solitary.•Multiple lesions are a features of
Gardner syndrome.•SITE : Arise on or inside skull, neck &
facial bones.•Hard•Exophytic masses on a bone surface.
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•Clinical course: •Slow growing tumor * obstruction of sinus * produce cosmetic problems or
deformites.
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2)OSTEOID OSTEOMA & 3)OSTEOBLASTOMA •Histologically identical benign tumors •differ in size, sites & symptoms.
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OSTEOID OSTEOMA• Size: <2cm diameter
• Age: teens & twenties
• Site: appendicular skeleton
• Severely PAINFUL LESIONS, nocturnal, dramatically relieved by aspirin (prostaglandin E2 production by proliferating osteoblasts).
• Actual tumour called NIDUS.
• Surrounded by a broad zone of (sclerosis) reactive bone formation on X-ray
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OSTEOBLASTOMA•Size: >2cm diameter
•Age: in adults
•Site: involves spine
•Painless or if painful it is dull, achy & not responsive to salicylates
•Surrounded by a broad zone of (sclerosis) reactive bone formation on X-ray
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4) OSTEOSARCOMA•Malignant mesenchymal tumor in
which cancerous cells produce bone matrix called OSTEOID.
•Most common primary malignant tumor of bones (20%)
•75% in <20 yr
•Remaining occur in old pt. with underlying conditions: e.g. Paget disease, bone infarct, previous irradiations
•Male to female ratio is 1.6:1
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Sites• Metaphyseal region of long bones.•60% occur about knee.•15% Hip•10% Shoulder•8% Jaw
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SECONDARY OS •develops following pre-existing bone disease eg
• Paget disease, • multiple osteochondromas,• ch. osteomyelitis, • infarct & fractures,• previous irradiation.
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RADIOGRAPHIC APPEARANCE•Large•Destructive•mixed lytic• & blastic mass•Codman triangle.•Sunburst appearance.
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CLINICAL COURSE•Painful enlarging masses•Pathological fracture•Mets to lungs, bones , brain•Chemotherapy & limb salvage therapy
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CARTILAGE-FORMING TUMORS
ORCHONDROGENIC
•Osteochondroma•Chondroma•Chondrosarcoma
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OSTEOCHONDROMA•Benign cartilage-capped outgrowth
attached to underlying bone by stalk•Usually single•Multiple in hereditary exostosis•Solitary: in late adolescence & early
adulthood•Multiple : in childhood•Male : Female ratio is 3:1•Site : arises from metaphysis of long
bones esp. about knee.
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•Size : 1-20cm•Asymptomatic slow growing tumors•Can be painful when impinge on nerve or
stalk is fractured•Epiphyseal growth disturbances in
multiple exostosis
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Osteochondroma. Hard, smooth, nodular swelling of the distal femur, skin and soft tissues are easily movable and the knee joint is freely mobile.
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CHONDROMA•Benign tumour composed of benign
hyaline cartilage.•ENCHONDROMA: within medullary
cavity•SUBPERIOSTEAL OR
JUXTACORTICAL CHONDROMA: Present on surface of bone (humerus 50%)
•SOFT TISSUE CHONDROMAS.
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ENCHONDROMA•The most common intraosseous cartilage tumor.•Age: 20-50 yr•Solitary lesions•Site : metaphyseal region of short tubular
bones of hands & feet•OLLIER DISEASE: multiple enchondromas.•25% of pat with Ollier Disease dev
Chondrosarcoma•MAFFUCCI SYNDROME: enchondromas with
soft tissue hemangiomas•Risk of malignant trs is more in Maffucci synd.
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MORPHOLOGY•Size: less than 3 cm•Gross: nodular grey blue translucent mass•Microscopically:- - Well circumscribed lesions. - Hyaline matrix. - Benign chondrocytes within lacunae. - Ossification & calcification are frequent.
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CLINICAL FEATURES •Symptomatic,•Painful mass,•Pathologic fracture,•X-RAYS: O-ring sign (well demarcated
radiolucent lesions ).•MAFFUCCI SYNDROME: risk of
developing other malignancies
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MULTIPLE CHONDROMAS IN OLLIER DISEASE
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CHONDROSARCOMA• Comprises a group of trs with the common feature
being the production of neoplastic cartilage.• 3rd most common malignant bone tumor
(myeloma & OS).• Age 40 yr or older (adults with mature skeletons).
M: F ratio is 2:1.• Arise in central portions of skeleton including
pelvis, shoulder, and ribs/proximal parts of tubular bones of the limbs.
• Painful, progressive enlarging masses.• Rarely involves the distal extremities in contrast
to enchondromas.
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SUBTYPES OF CS• ACCORDING TO SITE: Intramedullary (Central) Juxtacortical ( Surface) Extraskeletal Soft Tissue Chondrosarcoma
(Mesencymal type).• ACCORDING TO HISTOLOGY: Conventional (or myxoid/hyaline CS) Clear cell CS Dedifferentiated CS Mesenchymal CS . PRIMARY (DE-NOVO) .SECONDARY (EXOSTOSIS or OLLIERS
DISEASE).
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FIBROUS & FIBRO-
OSSEOUS TUMORS
•Fibrous cortical defect (FCD)•Non-ossifying fibroma (NOF)•Fibrous dysplasia
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FIBROUS CORTICAL DEFECT (FCD) ANDNON-OSSIFYING FIBROMA (NOF)•FCD are probably developmental
abnormalities rather than true neoplasms.•Mainly 0.5 in diameter.•Eccentrically arise in metaphysis of distal
femur and proximal tibia.•5-6cm develop into non-ossifying
fibromas.
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FIBROUS DYSPLASIA•Is a benign tumor•All component of normal bone is present,
but they fail to differentiate into mature structures.
•Fibrous dysplasia clinical pattern:1.monostatic: involvement of single bone2.polyststic: involvement of many bones3.mcCune-albright syndrome: polyostotic
disease with skin pigmentation and endocrine abnormalities specially occur in puberty.
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MISCELLANEOUS BONE TUMOR
S
• Giant cell tumor• Ewing sarcoma
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Giant cell tumor•GCT) is a rare, aggressive non-cancerous
(benign) tumor. • It generally occurs in adults between the
ages of 20 and 40 years.• Giant cell tumor of bone is very rarely
seen in children or in adults older than 65 years of age.
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Ewing Sarcoma•Ewing sarcoma a highly malignant
neoplasm predominantly affecting children and adolescents, with decisive male predominance, is representative of the so-called round cell tumors.
• Its precise histogenesis is unknown, but it is generally thought that Ewing sarcoma originates from bone marrow cells.
•Ewing sarcoma is a neurally derived small round cell malignancy very similar to the so-called primitive neuroectodermal tumor (PNET).
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•all tumors of the Ewing family are characterized by recurrent chromosomal translocations
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JOINTS
•ARTHRITIS•JOINT TUMORS AND TUMOR-LIKE LESIONS
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PSORIATIC ARTHRITIS
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JOINT TUMORS AND TUMOR-LIKE LESIONS• GANGLION & SYNOVIAL CYSTS:• Are reactive tumor-like lesions• A ganglion is a small cyst (less than 1.5cm)• location: near a joint capsule or tendon sheath• Common site: wrist• Consist of fluid-filled spaces that lack a true cell
lining.• Herniation of synovium through a joint casule or
massive enlargement of a bura can produce a synovial cyst. EXAMPLE: baker cyst that occurs in popliteal fossa.
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TENOSYNOVIAL GIANT CELL TUMOR•TGCT is a catchall term for several closely
related benign neoplasms of synovium.•It is the most common soft tissue tumor in
the hand.
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SOFT TISSUE
•TUMORS OF ADIPOSE TISSUE•FIBROUS TUMORS AND TUMOR-LIKE LESIONS•FIBROHISTIOCYTIC TUMORS•SKELETAL MUSCLE TUMORS•SMOOTH MUSCLE TUMORS•SYNOVIAL SARCOMA
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SOFT TISSUE•Any nonepithelial tissue other than bone,
cartilage, CNS, hematopoietic, and lymphoid tissues.
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TUMORS OF ADIPOSE TISSUE•LIPOMA: are benign tumors of fat•Most common in aduts•LIPOSARCOMA: are malignant
neoplasms with adipocytes differentiation.
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FIBROUS TUMORS AND TUMOR-LIKE LESIONS•REACTIVE PROLIFERATION:A. NODULAR FACIITIS: • self-limited fibroblastic proliferation.• Typically occurs in adults• Volar aspect of forearm, chest, or back.B. MYOSITIS OSSIFICANS:• develops in proximal m/s of extremities.• Common in athletic adolescents and
young adults after trauma.
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C. FIBROMATOSES:• Group of fibroblastic proliferation• Benign tumor• overgrowths of dermal and
subcutaneous connective tissue• Divided into the two types:• Superficial and deepD. FIBROSARCOMA• Are malignant neoplasms composed of
fibroblast• Occurs in deep tissues: thigh, knee &
retroperitoneal area.
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FIBROHISTIOCYTIC TUMORS•Fibrohistiocytic tumors are composed of a
mixture of fibroblasts and phagocytic, lipid-laden cells resembling activated tissue macrophages(also called as histiocytes by morphologist).
•BENIGN FIBROUS HISTIOCYTOMA:Also called as “dermatofibroma” Common benign lesions in adultMobile nodules in dermis or subcutaneous
tissue
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SKELETAL MUSCLE TUMORSRHABDOMYOSARCOMA:•Occur in childhood and adolescence.•COMMON SITES: head, neck &
genitourinary tract•Chromosomal translocation are found.
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SMOOTH MUSCLE TUMORSLEIOMYOMA:•Benign SMT •Can arise anywhere in the body•Most common site: uterus & skin
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SYNOVIAL SARCOMA•Arise from recapitulate synovium•They usually develop in deep soft tissues
around large joints of extremities.•Due to gene translocation.
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REFERENCES•PATHOLOGY OF Robbins and Cotran
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