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

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• 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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