BONES, JOINTS AND
SOFT TISSUE TUMORS
DOCTOR OF PHYSICAL
• CONGENITAL DISORDERS
OF BONE AND CARTILAGE
• ACQUIRED DISEASES OF
• BONE TUMORS
• also known as a congenital disease,
deformity, birth defect, or anomaly.
• It is a condition existing at or before birth
regardless of cause.
• It is a localized problem resulting from
mesenchymal cells migration and formation of
• 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).
1. APLASIA: congenital absence of digit or rib
2. FORMATION OF EXTRA BONE:
supernumerary digit or ribs
3. ABNORMAL FUSION OF BONE:
• Mutations that interfere with bone and cartilage
formation, growth or/and maintenance of
• 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
• 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.
• "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.
• 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,
• 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.
• literally "stone bone", also known as marble
• Is a group of rare genetic disorders characterized
by defective osteoclast-mediated bone
ACQUIRED DISEASES OF BONE
• acquired disorder is a medical condition
which develops post-fetally.
• is a non-heritable change in a function or
• caused after birth by disease, injury, accident,
deliberate modification, repeated use, disuse, or
misuse, or other environmental influences.
• PAGET DISEASE
• RICKETS &
• Is an acquired condition characterized by
reduced bone mass, leading to bone fragility and
susceptibility to fracture.
• 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
• 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
• The Paget disease usually presents in mid to late
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
• Osteomalacia is the adult counterpart, in
which bone formed during the remodeling is
unmineralized, result in predisposition to
• Any discontinuity in bone normal alignment.
• also known as Avascular necrosis, Aseptic
necrosis and ischemic necrosis.
• A disease caused by reduced blood flow to bones
in the joints.
• inflammation of bone or bone marrow, usually
due to infection.
• subclassified on the basis of the causative
organism (pyogenic bacteria or mycobacteria).
• Acute osteomyelitis is an inflammation of bone
caused by an infecting organism.
• Staphylococcus aureus is the most common
bacterium involved in the infection.
• 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.
• FIBROUS AND
• MISCELLANEOUS BONE
• Seen in middle aged adults.
• Usually solitary.
• Multiple lesions are a features of Gardner
• SITE : Arise on or inside skull, neck & facial
• Exophytic masses on a bone surface.
• Clinical course:
• Slow growing tumor
* obstruction of sinus
* produce cosmetic problems or deformites.
• 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
• 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
• Malignant mesenchymal tumor in which
cancerous cells produce bone matrix
• Most common primary malignant tumor of
• 75% in <20 yr
• Remaining occur in old pt. with underlying
e.g. Paget disease, bone infarct,
• Male to female ratio is 1.6:1
• Metaphyseal region of long bones.
• 60% occur about knee.
• 15% Hip
• 10% Shoulder
• 8% Jaw
• develops following pre-existing bone
• Paget disease,
• multiple osteochondromas,
• ch. osteomyelitis,
• infarct & fractures,
• previous irradiation.
• 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.
• Size : 1-20cm
• Asymptomatic slow growing tumors
• Can be painful when impinge on nerve or stalk is
• Epiphyseal growth disturbances in multiple
Hard, smooth, nodular swelling of the distal
femur, skin and soft tissues are easily movable
and the knee joint is freely mobile.
• Benign tumour composed of benign hyaline
• ENCHONDROMA: within medullary cavity
• SUBPERIOSTEAL OR JUXTACORTICAL
CHONDROMA: Present on surface of bone
• SOFT TISSUE CHONDROMAS.
• 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
• MAFFUCCI SYNDROME: enchondromas
with soft tissue hemangiomas
• Risk of malignant trs is more in Maffucci synd.
• Size: less than 3 cm
• Gross: nodular grey blue translucent mass
- Well circumscribed lesions.
- Hyaline matrix.
- Benign chondrocytes within lacunae.
- Ossification & calcification are frequent.
• Comprises a group of trs with the common feature
being the production of neoplastic cartilage.
• 3rd most common malignant bone tumor (myeloma
• 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
SUBTYPES OF CS
• ACCORDING TO SITE:
Juxtacortical ( Surface)
Extraskeletal Soft Tissue Chondrosarcoma
• ACCORDING TO HISTOLOGY:
Conventional (or myxoid/hyaline CS)
Clear cell CS
. PRIMARY (DE-NOVO)
.SECONDARY (EXOSTOSIS or OLLIERS
FIBROUS CORTICAL DEFECT (FCD) AND
NON-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.
• 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 bone
2.polyststic: involvement of many bones
3.mcCune-albright syndrome: polyostotic disease
with skin pigmentation and endocrine
abnormalities specially occur in puberty.
Giant cell tumor
• GCT) is a rare, aggressive non-cancerous
• 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.
• Ewing sarcoma a highly malignant neoplasm
predominantly affecting children and
adolescents, with decisive male predominance, is
representative of the so-called round cell
• 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).
• all tumors of the Ewing family are characterized
by recurrent chromosomal translocations
JOINT TUMORS AND TUMOR-LIKE
• 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
• 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.
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
• Any nonepithelial tissue other than bone,
cartilage, CNS, hematopoietic, and lymphoid
TUMORS OF ADIPOSE TISSUE
• LIPOMA: are benign tumors of fat
• Most common in aduts
• LIPOSARCOMA: are malignant neoplasms
with adipocytes differentiation.
FIBROUS TUMORS AND TUMOR-LIKE
• 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.
• Group of fibroblastic proliferation
• Benign tumor
• overgrowths of dermal and subcutaneous
• Divided into the two types:
• Superficial and deep
• Are malignant neoplasms composed of
• Occurs in deep tissues: thigh, knee &
• Fibrohistiocytic tumors are composed of a
mixture of fibroblasts and phagocytic, lipid-
laden cells resembling activated tissue
macrophages(also called as histiocytes by
• BENIGN FIBROUS HISTIOCYTOMA:
Also called as “dermatofibroma”
Common benign lesions in adult
Mobile nodules in dermis or subcutaneous tissue
SKELETAL MUSCLE TUMORS
• Occur in childhood and adolescence.
• COMMON SITES: head, neck & genitourinary
• Chromosomal translocation are found.
SMOOTH MUSCLE TUMORS
• Benign SMT
• Can arise anywhere in the body
• Most common site: uterus & skin
• Arise from recapitulate synovium
• They usually develop in deep soft tissues around
large joints of extremities.
• Due to gene translocation.
• PATHOLOGY OF Robbins and Cotran