Radiologic Pathology of the Skeletal CAUSE: This genetic disorder is caused by a

System change (mutation) in the fibroblast growth

factor receptor 3 (FGFR3) gene.

THREE TYPES OF SKELETAL SYSTEM

PATHOLOGY

 Congenital and Hereditary Diseases OSTEOPETROSIS

 Inflammatory Diseases
 Osteopetrosis and marble bone are
 Vertebral Column Neoplastic Diseases
terms used to characterize a variety of
disorders involving an increase in bone
density and defective bone contour,
CONGENITAL AND HEREDITARY
often referred to as skeletal modeling.
DISEASES OF THE SKELETAL SYSTEM
 Bones are abnormally heavy and
Osteogenesis imperfecta (OI) compact but nevertheless brittle.
 The Disorders characterizing
 referred to as brittle bone disease. osteopetrosis include:
 rare heritable or congenital disease osteosclerosis, craniotubular
affecting the skeletal system. (affecting the cranium and tunular
 deficient and imperfect formation of long bone), Dysplasia and
osseous tissue, skin, sclera, inner ear, Craniotubular hyperostoses.
and teeth is noted in individuals with
this disease.
 There are 8 recognized type of OI,
Craniotubular Dysplasia
Type I being the mildest and Type VIII
being the most severe.  group of rare autosomal recessive
 Can be congenital and hereditary hereditary diseases, which mainly
result in abnormal or defective bone
CAUSE: People with OI have a gene that
contour of the cranium and long
carries incorrect instructions in one copy of
bones.
the gene for making collagen, a substance
that makes bones strong. The gene causes
the body to not make enough collagen or the
SPECTRUM OF OSTEOPETROSIS:
collagen does not work properly.
Autosomal reccesive osteopetrosis
(ARO)
ACHONDROPLASIA
 onset in infancy
 The most common inherited disorder
Intermediate autosomal osteopetrosis
affecting the skeletal system.
(IAO)
 bone deformity and dwarfism
 It occurs in 1 in 15,000 to 40,000  develops in childhood
newborns.
 Individuals with this gene have about Autosomal Dominant osteopetrosis type
a 50% chance of transmitting it to II (ADOII)
their children.  occurs in late childhood or
 Because of a disturbance in adolescence.
endochondral bone formation, the
cartilage located in the epiphyses of
the long bones does not convert to CAUSE: People with osteopetrosis have a
bone in the normal manner, impairing gene that causes the body to make too few
the longitudinal growth of the bones. or abnormal cells called osteoclasts. When
Thus, patients with this type of the osteoclasts are missing, old bone is not
osteochondrodysplasia have a normal broken down as new bone is made, leading
trunk size and shortened extremities to dense, weak bones.

Hand and Foot Malformations

  variety of abnormalities of the fingers  Scoliosis refers to an abnormal lateral
and toes may occur during fetal curvature of the spine, associated with
development but can be surgically vertebral rotation .
corrected at birth.  The lateral curves are usually convex
to the right in the thoracic region and
to the left in the lumbar region of the
Syndactyly spine.
 Scoliosis does not generally become
 Failure of the fingers or toes to visually apparent until adolescence. It
separate, and causes the physical tends to affect girls more frequently
appearance of webbed digits. than boys and may cause numerous
 Associated with Apert syndrome, complications, including
which is a genetic syndrome involving cardiopulmonary complications,
mutations of fibroblast growth. degenerative spinal arthritis, and
fatigue and joint dysfunction
syndromes.
Polydactyly

 refers to the presence of extra digits,

and treatment includes surgical Nonstructural scoliosis: in which the
intervention and therapy primary issue is not vertebral rotation,
usually results from unequal leg lengths or
compensatory postural changes affected by
Clubfoot (Talipes) chronic pain elsewhere in the body.

 A congenital malformation of the foot CAUSE: scoliosis may develop as a result of

that prevents normal weightbearing. degeneration of the spinal discs, as seen
The foot is most commonly turned with arthritis, osteoporosis or as a hereditary
inward at the ankle. condition that tends to run in families.
 more common in males than in
females and may occur.bilaterally.
Spina Bifida

 particularly common in the

CAUSE: inherited in an autosomal dominant lumbosacral area.
pattern in some families,autosomal recessive  patients have no visible abnormality or
in some families, and X-linked in others. neurologic deficit, but failure of fusion
of the two laminae is visible
radiographically (spina bifida occulta).
Developmental Dysplasia of the Hip  In more severe cases, the spinal cord
 A malformation of the acetabulum or nerve root may be involved, which
often results in developmental results in varying degrees of paralysis.
dysplasia of the hip (DDH). Because CAUSE: Doctors aren't certain what causes
the acetabulum does not form spina bifida. It's thought to result from a
completely, the head of the femur is combination of genetic, nutritional and
displaced. environmental risk factors, such as a family
history of neural tube defects and folate
(vitamin B-9) deficiency.
CAUSE: The following are the risk factors for
DDH include female sex, first-born infant,
breech positioning in the third trimester, CRANIAL Anomalies
swaddling, postmaturity, LGA, conditions
causing limited in utero space, and family Craniosynostosis
history  The premature or early closure of any
of the cranial sutures.
 This congenital anomaly causes an
VERTEBRAL ANOMALIES overgrowth of the unfused sutures to
Scoliosis accommodate brain growth, which
alters the shape of the head.
  often associated with Apert syndrome,  more often affects metaphysis femoral
a genetic disorder that is caused by a and tibial bone.
mutation of the FGFR2 gene on
CAUSE: staphylococci, hemolytic
chromosome 10.
streptococci, escherichia coli,
Anencephaly mycobacterium, pathogentic fungi.

 a congenital abnormality in which the

brain and cranial vault do not form
Signs and Symptoms:
and in most cases only the facial bone
formed.  dull pain
 This abnormality results in death  heat in the affected area
shortly after birth and may be  intermittent low-grade fever
diagnosed before birth by
ultrasonography. TYPES:
 Anencephaly is a neural tube defect,  hematogenous
and its cause is unknown. Suspected  acute
cause may be life style, combination  chronic
of multiple genetic, environmental
factors and other disorders.
HEMATOGENOUS OSTEOMYELITIS

INFLAMMATORY DISEASES OF THE  develops at the ends of the long bones

SKELETAL SYSTEM  distal femur, proximal tibia, humerus
and radius are commonly affected in
children and the vertebrae in the
INFLAMMATORY DISEASE adults.
 in infants, this may be caused by
 results from the body’s reaction to a group B streptococci and escherichia
localized injurious agents. coli
 in children, s. aureus and streptococci
are the pathogenic microorganisms
TYPES: that are primarily responsible for the
infections
 osteomyelitis
 in adults, it is commonly secondary to
 tuberculosis
bacteremia caused by genitourinary
 arthropathies
tract, soft tissue, or respiratory
infections

THREE BASIC MECHANISMS THAT

ALLOW AN INFECTION TO REACH THE
ACUTE OSTEOMYELITIS
BONE
 formation of an abscess, leading to
TYPES:
an inflammatory reaction within the
 hematogenous bone that causes a rise in internal
 contagious bone pressure
 direct implantation
ACUTE HEMATOGENOUS OSTEOMYELITIS

 infants and children are more

OSTEOMYELITIS commonly affected by acute
hematogenous osteomyelitis
 an infective inflammatory disease because of increased vascularity
 an infection of the bone and bone and the rapid growth of their long
marrow caused by a pathogenic bones (which means that they have
microorganism spread via the a lower resistance to pathogenic
bloodstream microorganism, commonly,
 from an infection within a contiguous staphylococcus aureus)
site, or through direct introduction of
microorganism CHRONIC HEMATOGENOUS
OSTEOMYELITIS
  characterized by extensive bone from an adjacent infection such as
destruction with irregular, sclerotic osteomyelitis or an infected wound, or
reaction throughout the bone as a result of bacteremia
 a sequestrum is dead,
devascularized bone that appears
very dense Acute Bacterial Infectious Arthritis
 an involucrum is a shell of new
supporting bone laid down by the symptoms
periosteum around the  rapid onset of pain
sequestrum.  redness,
 and swelling of the affected joint,
often accompanied by fever
TUBERCULOSIS
diagnosis
 a chronic inflammatory disease
 caused by mycobacterium tuberculosis  generally maid by analysis of blood
 commonly affects the hip, knee, and and synovial fluid from the infected
spine area
 displays a “worm-eaten” appearance
at the ends of the long bones
 slowly destroys the epiphyses, Psoriatic Arthritis
spreading to the articular cartilages,  an inflammatory arthritis associated
and in some cases, infecting the joint with psoriasis of the skin
space  involves a rheumatoid-like destructive
process that predominantly affects the
distal interphalangeal (DIP) joints of
TUBERCULOSIS of the spine hands and feet
 also called as Pott’s Disease  may cause asymetric destruction of
 recognized in ancient times digits
 described in Egyptian mummies dating  findings may include bony ankylosis
back to 3000 BC (abnormal stiffening) of the
 destroys the spine, causing softening interphalangeal (IP) joints of hands
and eventual collapse of the and feet and resorption (destruction)
vertebrae, which results in of the terminal tufts of distal
paravertebral abscess formation and phalanges
exerts abnormal pressure on the spinal symptoms
cord
 swollen fingers and toes
 painful, sausage-like swelling of your
ARTHROPATHIES fingers and toes, foot pain, lower back
pain, nail changes, eye inflammation
Arthropathy
diagnosis
a collective term used to denote disorders of
the joints, includes, but is not limited to  physical exam to look for swollen or
arthritis, bursitis, tendonitis, and painful joints, and nail and skin
tenosynovitis changes. X-rays or scans like
ultrasound, MRI or CT can show joint
 joint inflammation is known as arthritis damage. Blood tests may help rule out
and may be caused by varieties of other diseases, and a skin biopsy can
eitiologic factors confirm psoriasis.

Reiter Syndrome
Infectious Arthritis
a variant of rheumatoid arthritis occuring
 caused by a variety of factors
most commonly in young males
including S. aureus, streptococci, and
neisseria gonorrhoeae associated with bacterial infections of the GI
 infectious agents may enter the joint Tract and genitourinary systems by
through a break in skin, via extension organisms such as chlamydia trachomatis,
shigella, salmonella, yersinia or symptoms
campylobacter
 pain, swelling, and stiffness of the
the sacroiliac joints, heels (calcanei), and affected joint, with periods of activity
toes are generally affected in this syndrome, or exacerbations and remissions of the
sometimes referred as “lover’s heel” disease process
 begins in the peripheral joints,
affects feet instead of hands
particularly in the small bones of
characterized bgy assymetric involvement of hands and feet and in the knee
the joints of the lower extremities, ill-defined
diagnosis
erosions of bone with adjacent areas of
proliferation, and a tendency to produce  magnetic resonance imaging (MRI)
heterotrophic bone and ultrasound may help diagnose
rheumatoid arthritis in the early
stages of the disease
Symptoms

 joint pain and inflammation that often

affect the knees, feet, and ankles. Juvenile Rheumatoid Arthritis
 inflammation of the tendon that is
 also known as Still disease, affects
attached to the bone (called
children under age 16 years and is
enthesopathy), which may cause heel
similar to the adult form of RA
pain or the shortening and thickening
 fibrosis and proliferation are less than
of the fingers
in the adult form
Diagnosis  affects nearly 100,000 children in the
United States
 nuclear medicine bone scans are
helpful in diagnosing early stage of symptoms
Reiner syndrome in the sacroiliac
 pain, swelling, and stiffness of the
joints and the disease may be imaged
affected joint with periods of activity
before any findings are visible on a
or exacerbations and remissions of the
conventional radiograph
disease process

diagnosis
Rheumatoid Arthritis
 is indicated if (1) the child is younger
 a chronic autoimmune disease that than 16 years at the onset of the
may fluctuate in severity disease, (2) symptoms of arthritis
 triggered by exposure of an (swelling or effusion) are present in
immunogenetically susceptible host to one or more joints for at least 6 weeks,
an arthritogenic antigen and is and (3) the onset can be assigned to
characterized by chronic inflammation one of three JRA onset types:
and overgrowth of the synovial pauciarticular, polyarticular, and
tissues, most often in the extremities systemic
 develops slowly, and as synovial
tissues proliferate, they progressively
destroy cartilage, bone, and Pauciarticular JRA
supporting structures
 genetic factors also are believed to  most common form, and it is more
predispose an individual to RA common in females than in males. It
 an analysis of blood chemistry affects four or fewer joints, most
identifies the presence of an commonly the knee, ankle, and elbow
autoantibody against γ-globulin, also joints
known as the serologic rheumatoid Polyarticular RA
factor (RF)
 it usually occurs between the ages of  affects five or more joints, generally
30 and 40 years and is three times those in hands, feet, and weight-
more common in women than in men bearing joints

Systemic JRA
  the least common form of RA in Osteoarthritis (primary)
children, and it can affect many areas
 may be inflammatory or erosive and
of the body, including joints and
destructive, resulting from a
internal organs
noninflammatory deterioration of the
joint cartilage that occurs with normal
wear and tear
Ankylosing Spondylitis
 in some cases, individuals may have a
 also called as “Marie-Strümpell genetic predisposition for developing
disease” osteoarthritis
 a progressive form of arthritis, mainly
involving the spine
 joints and articulations become Osteoarthritis (secondary)
ankylosed, especially the sacroiliac
 occurs as a result of bone stress
joints
associated with trauma, congenital
 tends to affect men between the ages
anomalies, or other diseases that alter
of 20 and 40 years and is believed to
the hyaline cartilage and surrounding
have a genetic predis position because
tissue.
it is 20 times more common in the
first-degree relatives of individuals
known to have this disorder
Osteoarthritis of Fingers
Symptoms
 is thought to be hereditary
 low back pain of varying intensities,  affects women after menopause, more
often nocturnal in nature and than it affects men
associated with morning stiffness
 other early signs and symptoms Symptoms
include low-grade fever, fatigue,  fingers become enlarged and often
weight loss, and anemia develop bony knobs termed Heberden
Diagnosis nodes and Bouchard nodes

 doctors may use x-rays to monitor the Gouty Arthritis

progression of the disease or to rule  an inherited metabolic disorder
out other causes for the joint pain  excess amounts of uric acid are
produced and deposited in the joint
and adjacent bone
Osteoarthritis  frequently in men and most commonly
affects the metatarsophalangeal joint
 the most common type of arthritis
of the great toe
 also known as degenerative joint
 acute attacks with intervals of
disease
remission
 affects men and women equally,
 may occur in patients placed on long-
although patients are usually
term diuretics, for instance, to treat
asymptomatic until they are in their
congestive heart failure
50s
 crystallization of uric acid within the
 a disease of cartilage and is classified
joint causes an acute inflammatory
as primary or secondary
reaction
 generally affects the large, primary
 large masses of these sodium urate
weight-bearing joints of the body such
crystalline deposits in joints and other
as the hip, where it is particularly
sites are called tophi
disabling, or the knees and ankles
 bone changes include erosion with
 may also affects the interphalangeal
overhanging enges
joints of the fingers
 one long-term complication of gout is
Symptoms the formation of radiolucent kidney
stones caused by increased excretion
 experiencing of pain and progressive
of uric acid by the kidneys
stiffening of the affected joint
Symptoms:
  the joint feeling hot and very tender,  provides attachments to muscles,
to the point of being unable to bear supports the trunk protects the spinal
anything touching it cord and nerve roots
 swelling in and around the affected
VERTEBRAL COLUMN INJURIES
joint
 red, shiny skin over the affected joint. causes
peeling, itchy and flaky skin as the
swelling goes down  include direct trauma, hyperextension–
flexion injuries, osteoporosis, and
metastatic destruction
Inflammation of Associated Joint
Structures whiplash

specialized connective tissues that attach  is a broad term that encompasses soft
muscle to bone are called tendons (enclosed tissue neck injuries from a variety of
synovial sheath) causes

tendonitis symptoms

 inflammation of tendon  interruption of smooth, continuous

lines formed by the vertebrae stacked
tenosynovitis one on another and may result from
hyperextension or hyperflexion injuries
 inflammation of the tendon and
sheath
Tendonitis
hyperextension injuries of the spine that may
chronic tendonitis result in
 may also cause the the formation of fracture or nonfracture injuries with spinal
calcium deposits in either the affected cord
tendon or an associated sheath, such
calcium deposits that form in the damage
shoulder joint as a result of chronic hyperflexion injury of the spine that
trauma often cause rotator cuff tears, produces subluxation of vertebrae, which
which can be detected on shoulder compromises the central canal and
radiographs, shoulder arthrogram compresses spinal cord parenchyma or
studies, and MRI examinations of the vascular structures
shoulder.

bursae
VERTEBRAL COLUMN DISEASES
 sacs that are lined the synovial
membrane, found in locations where Anterospondylolisthesis
tendons pass over bony prominences.  refers to the anterior slipping of the
bursitis body of the vertebra
 also known as spondylolisthesis
 inflammation of the bursa (may be
caused by acute or chronic trauma) symptoms
(eg: housemaid’s knee or prepatellar  identical to those of a herniated disk
bursitis) (refers to a problem with one of the
ganglion rubbery cushions (disks) that sit
between the bones (vertebrae) that
 a cystic swelling that develops in stack to make your spine)
connection with a tendon sheath
Retrospondylolisthesis

 refers to the posterior slipping of the

VERTEBRAL COLUMN NEOPLASTIC body of the vertebra
DISEASES  approximately 90% of such slippage
com monly occurs at the L5-S1
junction and is best detected on a
VERTEBRAL COLUMN (spinal column) lateral projection
symptoms  these lesions are composed of very
dense, well circumscribed, normal
 vary greatly and depend, in part, on
bone tissue that usually projects into
the grade of vertebral displacement
the orbits or paranasal sinuses
and how the adjacent structures are
 slow-growing tumors of little
affected by the backward slippage
significance unless they cause
VERTEBRAL COLUMN NEOPLASTIC  obstruction, impinge on the brain or
DISEASES eye, or interfere with the oral cavity
 a term associated with osteoma of the
 conditions that cause tumor growth skull is hyperostosis frontalis
 growth can be either benign interna
(noncancerous) or malignant
(cancerous)
 benign tumors usually grow slowly and
Endochondroma
can't spread to other tissues
 conversely, malignant tumors can  is a slow-growing benign tumor
grow at a slow pace, but they can also composed of hyaline cartilage and is
grow very fast depending on the exact hypothesized to be a result of
tumor type incomplete endochondral ossification
(natural process of bone formation)
Osteochondroma
 grows in the marrow space and most
 also called as exostosis commonly affects the small bones of
 the most common benign bone tumor the hands and feet of individuals
 three times more common in men between the ages of 30 and 40 years
than women  do not invade surrounding tissue as
 arises from growth zone between the they grow; however, they do expand
epiphysis and diaphysis of long bones, the cortical bone, causing thinning
also called metaphysis  appear as radiolucent lesions
 most commonly, it involves the lower containing small, stippled
femur or upper tibia and is capped by calcifications (a process in which
growing cartilage attached to the calcium builds up in body tissue,
skeleton by a bony stalk causing the tissue to harden)
 are well circumscribed and appear as
 exostoses or excessive bone growth a “bubbly” lesion of the bone
may appear singular or multiple  multiple growths, termed
lesions and are normally diagnosed in enchondromatosis (Ollier disease),
childhood or adolescence may also occur in childhood and, like
 multiple hereditary exostoses (MHE) multiple osteochondromas, may
indicate a hereditary disorder and undergo malignant transfor mation
usually appear at an earlier age than with a risk of 25% to 30%
compared with the single-lesion
osteochondroma
 may transform to malignant Simple Unicameral Bone Cyst (UBC)
neoplasms such as chondrosarcoma
 is a wall of fibrous tissue filled with
 are asymptomatic unless the affected
fluid
long bone is traumatized, which
 frequently occur in the long bones of
results in a pathologic fracture of the
children, most commonly in the
diseased bone
humerus and proximal femur
 has an osteosclerotic (increase of bone
 80% of all simple bone cysts occur
formation) or osteoblastic (cells that
between 3 and 14 years of age and
form new bones and grow and heal
twice as often in boys as in girl
existing bones) radiologic appearance
 the cyst is usually first noticed when
the patient reports pain, caused by
increased tumor growth or as a result
Osteoma
of a pathologic fracture
 a less frequent benign growth most  radiographically, UBCs appear
commonly located in the skull radiolucent with well-defined margins
 from normal bone surrounding the  Approximately 50% of osteoclastomas
lesion are benign, 35% to 50% recur after
surgical excision, and 15% are
aggressively malignant from the
Aneurysmal Bone Cyst (ABC) beginning.
 Clinical signs and symptoms of a GCT
 an idiopathic condition (uncertain or are nonspecific and include pain,
unknown origin) and not a true tenderness, an occasional palpable
neoplasm mass, and an occasional pathologic
 these cysts generally occur in the fracture
metaphysis of long bones in
individuals under the age of 20 years
and consist of numerous blood-filled
arteriovenous communications
 slow-growing lesions
 this cystic growth causes a thinning of
the cortex that is apparent radio
graphically and as a well-
circumscribed lesion associated with
soft tissue extension and periosteal Osteosarcoma (Osteogenic Sarcoma)
bulging  The most common primary
causes malignancy of the skeleton is
osteosarcoma, which arises from
 trauma osteoblasts.
 reactive malformation  The cause of osteosarcoma is linked
 genetic predisposition genetically to deletion of genetic
material on chromosome 13 and the
symptoms
oncogenesrc.
 pain and swelling at the site of the  This neoplasm is most frequently
cyst’s location found in the metaphyses of long
 headache bones, with approximately 50%
 diplopia (double vision) affecting the knee. Osteosarcoma may
occur at any age, but 75% occur in
patients younger than 20 years old
Osteoid Osteoma and Osteoblastoma

 Other common benign tumors of the

Ewing Sarcoma
skeletal system are osteoid osteoma
and osteoblastoma.  Another primary malignant bone
 Osteoblastomas more frequently tumor
involve the spine, and pain may not be  This neoplasm occurs at a younger
present. Furthermore, they are not age than any other primary malignant
associated with a marked bone bone neoplasm, usually between the
reaction or new bone production and ages of 5 and 15 years, and rarely
are classified radiographically as after age 30 years.
osteolytic lesions.  Clinical symptoms are nonspecific and
 Osteoid osteomas occur twice as often include pain and tenderness of the
in men as in women and almost affected area.
always develop before the age of 30
Chondrosarcoma
years
 a malignant tumor of cartilaginous
origin and is composed of atypical
Giant Cell Tumor (Osteoclastoma) cartilage. It is only half as common as
osteosarcoma; approximately 10% of
 Giant cell tumors (GCTs) are
all malignant tumors of the skeletal
characterized by the presence of
system are chondrosarcomas.
numerous, multinucleated osteoclastic
 Common locations for
giant cells.
chondrosarcoma are the pelvis,
shoulder, and ribs.
  Men are three times more likely than
women to develop chondrosarcoma,
and it is more common in older adults

Metastases from Other Sites

 Virtually any type of cancer may

metastasize to bone; metastatic
disease from carcinomas is the most
common malignant tumor of the
skeleton, with secondary bone tumors
of any origin far outnumbering primary
bone tumors.
 Principal signs and symptoms are pain
and pathologic fracture.
 The bones of the skeletal system that
contain red bone marrow are the
major bones affected by the
metastatic disease because of their
abundant vascularization.
 The most common primary sites for
metastatic bone cancer are the breast,
lung, prostate, kidney, thyroid, and
bowel, with the tumor spreading via
proximity (direct extension), the
bloodstream, or the lymphatic system