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Musculoskeletal Disease

Normal Skeletal System


The skeletal system is as vital to life as any
organ system because it plays an essential
role in:
1) mineral homeostasis
2) houses the hematopoietic elements
3) provides mechanical support for movement
4) protects & provides body size and shape

Normal Skeletal System


Bone is a type of connective tissue
Biochemically, it is defined by its special
blend of organic matrix (35%) and inorganic
elements (65%)
The inorganic component, calcium
hydroxyapatite is the mineral that give bone
strength and hardness and is the storehouse
for 99% of the bodys calcium

Normal Skeletal System


Bone also contains 85% of the bodys
phosphorus and 65% of the sodium and
magnesium
The rate of mineralization can vary but
normally there is a 12-15 day lag time
between the formation of the matrix and its
mineralization; bone that is unmineralized is
known as OSTEOID

Normal Skeletal System


The organic component includes the cells of
bone and proteins of the matrix; the boneforming cells include:
1) OSTEOPROGENITOR cells are
pluripotential mesenchymal stem cells that are
located in the vicinity of all bony surfaces;
they can undergo cell division and produce
offspring that differentiate into osteoblasts

Normal Skeletal System


2) OSTEOBLASTS are located on the surface
of bone & synthesize, transport, & arrange the
many proteins of the matrix; they also initiate
mineralization; once surrounded by matrix they
are called
3) OSTEOCYTES: these are the most numerous
bone-forming cells & although encased in bone
communicate via CANALICULI

Normal Skeletal System


OSTEOCLASTS are the cells responsible for
bone resorption and are derived from
hematopoietic progenitor cells that also give
rise to monocytes and macrophages; the
scalloped resorption pits they produce and often
reside in are known as HOWSHIP LACUNAE;
as bone is broken down to its elemental units,
substances are released that initiate its renewal

Normal Skeletal System


The proteins of bone include type 1 collagen
(90% of organic component) and a family of
noncollagenous proteins that are derived
mainly form osteoblasts
Osteoblasts deposit collagen either in a
random weave known as WOVEN BONE or
in an orderly layered manner called
LAMELLAR BONE

Normal Skeletal System


The presence of woven bone in the adult is
always indicative of a pathologic state
Lamellar bone, which gradually replaces the
woven bone of the fetal skeleton, is deposited
much more slowly and is stronger than woven
bone; there are 4 different types of lamellar
bone: circumferential, concentric, interstitial
(in cortex) & trabecular lamellae

Diseases of Bone

Malformations of Bone

Congenital ones are uncommon & include:


1) failure of development; e.g. rib absence
2) formation of extra bones; e.g. extra digit
3) fusion of bones; e.g. syndactylism(digits)
4) development of long, spider-like digits; e.g.
arachnodactylism
5) craniorachischisis (failure of closure of skull
and spinal column

Achondroplasia
Is the most common disease of the growth
plate and is a major cause of dwarfism
Is an autosomal dominant disorder with
approx. 80% representing new mutations
Pt. has shortened proximal extremities, a
trunk of relative normal length and an
enlarged head; not associated with changes in
longevity, intelligence or reproduction

Diseases Associated With


Abnormal Matrix
Osteogenesis imperfecta

Osteogenesis imperfecta
Osteogenesis imperfecta or brittle bone
disease is a group of hereditary conditions
characterized by abnormal development of
type I collagen
This spectrum of disorders of varying
severity are united by the common feature
of abnormal collagen synthesis and the
resulting bone fragility

Osteogenesis imperfecta
Most variants are inherited as autosomal
dominants
Is characterized by multiple bone fractures
which may occur in utero in the severe forms
Other findings include: blue sclerae (caused
by decreased collagen); hearing loss (ear
bone abnormalities; dental imperfections

Osteoporosis
Is a term that denotes increased porosity of
the skeleton resulting from a reduction in
bone mass
It may be localized, e.g. disuse osteoporosis
of a limb, or generalized as a manifestation
of a metabolic bone disease

Osteoporosis
When used in an unqualified manner,
osteoporosis usually refers to the most
common forms, senile and postmenopausal
osteoporosis, in which the critical loss of
bone mass makes the skeleton vulnerable to
fractures

Osteoporosis
Peak bone mass is achieved during young
adulthood and is largely determined by
hereditary factors, especially the allele for the
vitamin D receptor molecule
Physical activity, muscle strength, diet and
hormonal state also contribute
Age-related bone loss (approx. 0.7%/yr) is a
normal biological phenomenon

Osteoporosis
Both sexes are affected equally and Whites
more so than Blacks
Differences in the peak skeletal mass in men
vs women and Blacks vs Whites may
partially explain why certain populations are
prone to develop the disorder
Much remains unknown; the following are
related to the development of osteoporosis:

Osteoporosis
1) Age-related changes; in older people boneforming cells have diminished capacity to
make bone
2) Reduced physical activity; mechanical
forces are important stimuli for normal bone
remodeling
3) Genetic factors; importance of vitamin D
receptors

Osteoporosis
4) Bodys calcium nutritional state; adolescent
girls with insufficient calcium intake are later
at greater risk of developing osteoporosis
5) Hormonal influences; postmenopausal
osteoporosis is characterized by a hormonedependent acceleration of bone loss; estrogen
replacement protects against bone loss

Osteoporosis
Clinical manifestations may include: vertebral
fractures, lumbar lordosis and kyphoscoliosis;
pulmonary embolism and pneumonia may result
from overt fractures of the femoral neck, pelvis
or spine
Plain radiographs cannot detect osteoporosis until
30-40% of bone mass is loss; thus specialized
radiographic imaging techniques and biopsy are
helpful

Diseases Caused by Osteoclast


Dysfunction

Osteopetrosis (Marble Bone or


Albers-Schonberg Disease)
Osteopetrosis refers to a group of rare
hereditary diseases characterized by
osteoclast dysfunction resulting in diffuse
symmetric skeletal sclerosis
Clinical features: fractures, anemia, optic
atrophy, hydrocephaly, deafness, facial
paralysis & serious infections may occur;
manifestations depend on form of disease

Paget Disease (Osteitis


Deformans)
Is a unique disorder characterized by
episodes of localized, frenzied osteoclastic
activity with bone resorption followed by
exuberant bone formation with a net effect
of a gain in bone mass
Paget disease usually begins during middle
adulthood and becomes progressively more
common thereafter

Paget Disease
As the result of the repetitive bone destruction
and formation 3 phases of Paget can be
identified:
1) an initial phase of osteoclastic activity,
hpervascularity and bone loss
2) a phase of mixed osteoclastic and
osteoblastic activity and
3) a late, osteosclerotic phase

Paget Disease
The disease is usually asymptomatic but can
frequently be diagnosed from radiographic
findings; many patients manifest elevated serum
alkaline phosphastase levels
Pain is most common problem; headache, hearing
& visual disturbances, enlargement of the head
(leontiasis ossea), bowing and chalkstick-type
fractures of legs, variety of tumors/ tumor-like
conditions occur

Diseases Associated With


Abnormal Mineral Homeostasis
Hyperparathyroidism

Hyperparathyroidism
Hyperparathyroidism is classified into
primary and secondary types
Primary type results from autonomous
hyperplasia or a tumor (usually an adenoma)
of the parathyroid gland
Secondary is commonly caused by prolonged
states of hypocalcemia resulting in
compensatory hypersecretion of PTH

Hyperparathyroidism
The skeletal manifestations of
hyperparathyroidism are caused by unabated
osteoclastic bone resorption
The entire skeleton is affected to more or
lesser degree
Anatomic changes of severe
hyperparathyroidism are known as osteitis
fibrosa cystica

Hyperparathyroidism
Secondary hyperparathyroidism is usually
not as severe or as prolonged as primary and
hence skeletal changes are milder
The hallmark of PTH excess is increased
osteoclastic activity with bone resorption
Resorption may be generalized or localized,
e.g. diffuse radiolucency, surface erosion or
brown tumor

Hyperparathyroidism
The decrease in bone mass predisposes to
fractures, deformities caused by the stress
of weight bearing and joint pain and
dysfunction

Renal Osteodystrophy
The term is used to describe collectively all
of the skeletal changes of chronic renal
disease
There are to major types:
1) high-turnover osteodystrophy
characterized by increased bone resorption
and formation with the former predominating

Renal Osteodystrophy
2) low-turnover (aplastic) characterized by
a marked reduction in the rate of bone
mineralization, formation and resorption

Renal Osteodystrophy
The skeletal changes include:
1) increased osteoclastic bone resorption
2) delayed matrix mineralization
(osteomalacia)
3) osteosclerosis
4) growth retardation
5) osteoporosis

Infections of Bone-Osteomyelitis

Osteomyelitis
Osteomyelitis denotes inflammation of bone
and marrow and the common use of the term
virtually always implies infection
All type of organisms including viruses,
parasites, bacteria, and fungi can produce
osteomyelitis but infections caused by
certain pyogenic bacteria and mycobacteria
are the most common

Pyogenic Osteomyelitis
Pyogenic osteomyelitis is almost always
caused by bacteria
Organism may reach bone by: 1)
hematogenous spread (most common route);
2) extension from a contiguous site; or 3)
direct implantation
Long bones and vertebral bodies most
commonly involved

Pyogenic Osteomyelitis
S. aureus is responsible for 80-90% of cases
E. coli, Pseudomonas and Klebsiella are more
commonly isolated from pts. with UG tract
infections or are drug users
Mixed infections seen in cases of surgery or
open fractures
Neonatal period: H. influenzae and group B
strept.; Salmonella in pts. with sickle cell

Pyogenic Osteomyelitis
Location of lesions within specific bones is
influenced by vascular circulation and varies
with age
Clinically hematogenous osteomyelitis may
manifest as an acute systemic illness with
malaise, fever, chills, leukocytosis and
throbbing pain over affect site
X-rays, biopsy & cultures help with dx

Pyogenic Osteomyelitis
The combination of antibiotics and surgical
drainage is usually curative
In 5-25% of cases, acute osteomyelitis fails
to resolve and persists as chronic infection
Complications may include: pathologic
fracture, endocarditis, sepsis, etc.

Tuberculous Osteomyelitis
1-3% of pts. with pulmonary or
extrapulmonary T.B. have osseous infection
Typically, pts. present with pain on motion,
localized tenderness, low-grade fevers, chills
and weight loss
Severe destruction of vertebrae (Potts
disease) may cause skeletal deformities and
neurologic deficits

Tumors of Bone
Benign Bone-Forming Tumors

Osteoma
Osteomas are benign lesions of bone that in
many cases represent developmental or
reactive growths rather than true neoplasms
The most common locations are the facial
bones and skull
Most common in 40-50 yr. group
Most are exophytic growths attached to the
bone surface

Osteoma
Histologically they resemble normal bone
Multiple osteomas are seen in GARDNER
SYNDROME
They are generally slow-growing tumors of
little clinical significance except when they
cause obstruction or produce cosmetic
problems
They do not undergo malignant change

Osteoid Osteoma and


Osteoblastoma
Benign bone tumors that have identical
histologic features but that differ in size, sites
of origin and symptoms, however both are
more common in th 10-20 yr. age group
Osteoid osteomas are <2 cm in greatest
dimension, more common in the metaphysis
of the femur and tibia and characterized by
severe pain (nocturnal and relieved by aspirin)

Osteoid Osteoma and


Osteoblastoma
Osteoblastomas are more common in the
spine; while painful, the pain is dull and
achy (not relieved by aspirin)and the
vertebral column is most common site
Both lesions are readily treated by
conservative surgery but can recur if not
completely excised; malignant
transformation is rare unless irradiated

Tumors of Bone
Malignant-Bone Forming

Osteosarcoma (Osteogenic
Sarcoma)
Osteosarcoma is defined as a malignant
mesenchymal tumor in which the cancerous
cells produce bone matrix
It is the most common primary malignant
tumor of bone exclusive of myeloma and
lymphoma
75% of cases occur in pts. younger than 20
years (however, with jaw tumors pts. older)

Osteosarcoma
Male predilection 1.6:1
Tumors usually arise in metaphyseal region
of long bones of extremities with almost 50%
around the knee
Morphology: grow outward, lifting
periosteum and inward to the medullary
cavity; microscopically, malignant cells form
osteoid; cartilage may be present also

Osteosarcoma
Typically present as painful and progressively
enlarging masses; occasionally pathologic
fracture is first symptom
Approx. 20% of pts. have pulmonary mets at
time of dx
Advances in treatment have improved
prognosis with 5yr survival now 60% overall

Tumors of Bone
Benign Cartilaginous Tumors

Osteochondroma
Osteochondroma, also known as an
exostosis, is a benign cartilage-capped
outgrowth that is attached to the underlying
skeleton by a stalk
They may be solitary or multiple and
hereditary (multiple hereditary exostosis
which is autosomal dominant)

Osteochondroma
More commonly involve the metaphysis of
long tubular bones in the 10-30 yr. age group
Clinically, osteochondromas present as
slow-growing masses which can be painful
if they impinge on a nerve
They stop growing at the time of growth
plate closure; <1% give rise to sarcoma

Chondroma
Chondromas are benign tumors of hyaline
cartilage
When they arise within the medullary
cavity they are known as
ENCHONDROMAS and on the surface of
bone they are termed SUBPERIOSTEAL
OR JUXTACORTICAL CHONDROMAS

Chondroma
Chondromas are most common in the small
bones of the hands and feet of people in their
twenties to forties
The syndrome of multiple enchondromas or
enchondromatosis is known as OLLIER
DISEASE
They are though to develop from rests of
growth plate cartilage

Chondroma
Most enchondromas are asymptomatic
although occasionally they are painful or
cause pathologic fracture
On x-ray they appear as unmineralized
nodules of cartilage (well-circumscribed
radiolucency) surrounded by a thin rim of
radiodense bone (O ring sign)

Chondroma
The growth potential is limited
If treatment is required, surgical excision is
the choice
Solitary chondromas rarely undergo
malignant change but the multiple
enchondromatoses do so more frequently

Tumors of Bone
Malignant Cartilaginous Tumors

Chondrosarcoma
Chondrosarcomas are malignant neoplasms
populated by mesenchymal cells that produce
a cartilaginous matrix
There are several subclassifications
Chondrosarcomas are about half as frequent
as osteosarcomas
Most patients are in the 40-60 year range with
a 2:1 male predilection

Chondrosarcoma
The bones of the shoulder, pelvis, proximal
femur and ribs are most commonly involved
Microscopically, range from welldifferentiated cartilage-like to anaplastic
tumors
In contrast to enchondroma, chondrosarcoma
rarely involves the distal extremities

Chondrosarcoma
Chondrosarcomas present most often as
enlarging, painful masses; their growth rate
and ultimate behavior is closely correlated
with histologic grade
Chondrosarcomas metastasize via the
hematogenous route, most often to the lungs
5-year survival rate was 90%, 81% and 43%
in grades 1 through 3 in one study

Miscellaneous Tumors and


Tumor-Like Conditions of Bone

Giant Cell Tumor of Bone


(Osteoclastoma)
Giant cell tumors are lesions that contain a
large number of osteoclast-like giant cells
admixed with mononuclear cells
Most arise in the epiphyses of long bones
Pts. are in the 20-40 year age range with a
slight female predilection
Usually present with pain and biopsy is
necessary for dx

Giant Cell Tumor


Several different bone disorders have
multinucleated giant cells so their presence
along is not diagnostic
The behavior is somewhat unpredictable
Sarcomatous transformation is rare but may
occur de novo or with irradiation of a
benign tumor

Ewings Sarcoma
Is a primitive malignant neoplasm of bone
that occurs predominantly in children in
whom it is the second most common
malignancy after osteosarcoma
It is a highly aggressive neoplasm which has
been associated with a chromosomal
translocation identical to that seen in
primitive neuroectodermal tumors

Ewings Sarcoma
Classically presents with pain often
accompanied by local inflammation; fever is
fairly common along with elevated SED
rate, anemia and leukocytosis
X-rays show a destructive lytic tumor which
may show a periosteal reaction producing
layers of reactive bone (onion-skin
appearance)

Ewings Sarcoma
Treatment includes chemotherapy and
surgery with/without radiation
This treatment has increased the 5-year
survival to approximately 75%

Fibrous Dysplasia
Is a benign tumor-like lesion of bone that is
best characterized as a localized
developmental arrest; all the components
are present but they do not differentiate into
mature structures

Fibrous Dysplasia
There are three clinical patterns:
1) involvement of a single bone (monostotic)
2) involvement of multiple but not all bones
(polyostotic)
3) polyostotic disease associated with cafau-lait spots and endocrine abnormalities
such as precocious puberty

Fibrous Dysplasia: Monostotic


Accounts for approx. 70% of all cases
Occurs about equally in boys & girls usually in
early adolescence
Often stops growing at the time of growth plate
closure
Ribs, femur, tibia, jaws, skull common sites
Usually asymptomatic; can cause marked
enlargement and distortion of bone

Fibrous Dysplasia: Polyostotic


without Endocrine Dysfunction
27% of cases
Appears at an earlier age and progresses into
adulthood
50% have craniofacial involvement
All forms have severe involvement of
shoulder and pelvic girdles resulting in severe
crippling deformities (shepherd-crook
deformity) and often fractures

Polyostotic with Skin


Pigmentation & Endocrinopathy
Also known as McCune-Albright Syndrome
Caf-au-lait spots
Endocrinopathies may include: sexual
precocity, hyperthyroidism, pituitary
adenomas producing GH and primary
adrenal hyperplasia
Girls more frequently involved than boys

Fibrous Dysplasia
Pts. with monostotic disease have minimal
symptoms
Lesions readily diagnosed by x-ray (groundglass, etc.) and biopsy
Conservative surgery for symptoms or
cosmetics
Polyostotic frequently associated with
progressive disease; rare sarcomatous trans.

Diseases of the Joints


Osteoarthritis

Osteoarthritis
(Degenerative Joint Disease)
Is the most common type of joint disease
Is characterized by the progressive erosion of
articular cartilage
Although the term osteoarthritis implies an
inflammatory disease & inflammatory cells
may be present, it is considered an intrinsic
disease of cartilage in which biochemical &
metabolic alterations result in its breakdown

Osteoarthritis
Most cases begin insidiously without an
apparent initiating cause as an aging
phenomenon (primary osteoarthritis)
About 5% of cases appear in younger pts.
with predisposing conditions such as: joint
trauma, developmental deformity or a
systemic disease, e.g. diabetes or obesity; in
these cases is called secondary osteoarthritis

Osteoarthritis
Prevalence increases exponentially beyond
the age of 50 with about 80-90% of both
sexes having osteoarthritis by age 65
Age-related changes include: alterations in
proteoglycans & collagen, which decrease
tensile strength & shorten fatigue life but it
is not simply a disease of wear and tear

Osteoarthritis
Chondrocytes play a primary role and
constitute the cellular basis of the disease
They produce IL-1 & TNF-alpha, which are
known to stimulate the production of
catabolic metalloproteinases and inhibit the
synthesis of both type 2 collagen and
proteoglycans; other mediators also have a
role in matrix degradation

Osteoarthritis: Clinical Features


Is an insidious disease
Characteristic symptoms include: deep,
achy pain that worsens with use, morning
stiffness, crepitus, and limitation of range of
movement; impingement on spinal foramina
by osteophytes results in cervical & lumbar
nerve root compression with pain, muscle
spasms & atrophy & neurologic deficits

Osteoarthritis: Clinical Features


Typically, only one or a few joints are
involved
Joints commonly involved are: hips, knees,
lower lumbar & cervical vertebrae, proximal
& distal interphalangeal joints of fingers,
etc.; Heberden nodes: which common in
women, represent prominent osteophytes in
distal interphalangeal joints

Osteoarthritis: Clinical Features


There is still no satisfactory means of
preventing primary osteoarthritis and no
methods of halting its progression

Rheumatoid Arthritis (RA)


RA is a chronic systemic inflammatory
disorder that may affect many tissues and
organs (skin, blood vessels, heart, lungs and
muscles) but principally attacks the joints
producing a nonsuppurative proliferative
synovitis that often progresses to
destruction of the articular cartilage and
ankylosis of the joints

Rheumatoid Arthritis (RA)


Affects 1% of worlds population with a
female predilection of 3-5:1; peak incidence
is between 20-40 years
Cause remains unknown but autoimmunity
plays a pivotal role; currently believed RA
is triggered by exposure of an
immunogenetically susceptible host to an
arthritogenic microbial antigen

Rheumatoid Arthritis (RA):


Clinical Course
Is extremely variable
Begins insidiously with malaise, fatigue and
generalized musculoskeletal pain and then
joint pain
Small points are usually affected first
Involved joints are swollen, warm, painful
and stiff on arising or following inactivity

Rheumatoid Arthritis(RA):
Clinical Features
Disease course may be slow or rapid and
pts. may enjoy periods of partial or
complete remission
X-ray hallmarks are joint effusions and
juxtaarticular osteopenia with erosions and
narrowing of joint space with articular
cartilage loss; end result is deformed joints
that have no stability or range of motion

Rheumatoid Arthritis (RA):


Clinical Features
No specific lab tests are diagnostic as pts.
may/may not have rheumatoid factor
(autoantibodies to Fc portion of autologous
IgG) and it may be seen in other diseases

Rheumatoid Arthritis (RA):


Clinical Features
Dx is primarily made on clinical features of:
1) morning stiffness; 2) arthritis in 3 or
more joint areas; 3) arthritis of hand joints;
4)symmetric arthritis; 5) rheumatoid
nodules; 6) serum rheumatoid factor; and 7)
typical radiographic changes

Rheumatoid Arthritis (RA):


Clinical Features
Most pts. have progressive disease and RA
is said to reduce life expectancy by 3-7
years
Death is usually due to complications, e.g.
systemic amyloidosis & vasculitis or to
effects of therapy, e.g. GI bleeding related to
long-term use of anti-inflammatory drugs &
infections from steroid use

Gout
Is the common end point of a group of
disorders that produce hyperuricemia
Crystallization of urates within and around
joints in gout create lesions known as TOPHI
Tophi represent large aggregates of urate
crystals and the surrounding inflammatory
reaction

Classification of Gout: Primary


Gout (90% of cases)
Clinical Category
1) Enzyme defects
unknown
2) Known enzyme
defects; e.g. partial
HGPRT deficiency
(rare)

Metabolic Defect
1) Overproduction or
underexcretion of uric
acid
2) Overproduction of
uric acid

Classification of Gout:
Secondary Gout (10% of cases)
Clinical Category
Assoc. with increased
nucleic acid turnover;
e.g. leukemias
Chronic renal disease
Inborn errors of
metabolism; e.g.
complete HGPRT
defic. (Lesch-Nyhan)

Metabolic Defect
Overproduction &
increased excretion of
uric acid
Reduced excretion
Overproduction of uric
acid with increased
urinary excretion

Gout

Factors contributing to development of gout


1) Age: increases with age
2) Genetic predisposition: HGPRT defic.
3) Alcohol: increased with heavy use
4) Obesity: increased
5) Drugs: e.g. thiazides predispose to
6) Lead toxicity: increases the tendency

Gout
Patients with hyperuricemia do not
necessarily have gout
Central to the pathogenesis of the arthritis is
precipitation of monosodium urate crystals
into the joints

Gout: Clinical Features

The natural history of gout has 4 stages:


1) asymptomatic hyperuricemia
2) acute gouty arthritis
3) intercritical gout (asymptomatic period)
4) chronic tophaceous gout (disabling
disease characterized by juxta-articular
bone erosion and loss of joint space)

Gout: Clinical Features


Hypertension is common in pts. with gout
Renal problems are common also with renal
colic, stone formation and finally chronic
gouty nephropathy; 20% of those with
chronic gout die of renal failure
Many drugs are available to abort and
prevent problems of gout; gout does not
materially shorten life expectancy

Infectious Arthritis: Lyme


Disease
Is caused by the spirochete Borrelia
burgdorferi
Is transmitted from rodents to people by tiny,
hard deer ticks (Ixodes dammini, I. ricinus,
etc.)
Joint involvement is the most common
manifestation of disseminated infection and
develops in approx. 80% of patients

Diseases of Skeletal Muscle

Diseases of Skeletal Muscle


Muscle Atrophy

Neurogenic and Type II Myofiber


Atrophy
Skeletal muscle fibers undergo progressive
atrophy if deprived of their normal
innervation
Type II atrophy is seen in pts. who develop
disuse atrophy when bedridden or otherwise
immobilized; type II atrophy is also seen in
pts. receiving glucocorticoids or with
endogenous hypercortisolism

Myasthenia Gravis
Is an acquired autoimmune disorder of
neuromuscular transmission characterized
by muscle weakness
Has been associated with other autoimmune
diseases; e.g. SLE, RA and Sjogrens
15-20% of pts. have have thymomas while
2/3 have hyperplasia of thymus

Myasthenia Gravis: Clinical


Features
Onset of muscle weakness is typically insidious
and often abrupt
Initial involvement is usually the muscles of the
eyelids and muscles controlling eye movement
(drooping of eyelid & double vision);
involvement of facial & neck muscles makes
chewing and holding the head upright difficult;
respiratory muscle involvement may lead to
respiratory failure

Muscular Dystrophies

Duchenne Muscular Dystrophy


(DMD)
DMD is an X-linked hereditary disease
caused by the absence of a structural protein
termed dystrophin
As expected most pts. are male
The cardinal manifestation is muscle
weakness, which initially is most
pronounced in the proximal muscles

DMD
Early manifestations include clumsiness,
followed by weakness in the pelvic and
shoulder girdles; calf muscles may enlarge
Signs and symptoms begin about the age of
5 and progress to leave most pts. wheelchairbound by their teen years; most pts. die in
their 20s usually due to respiratory failure or
pneumonia; cardiac abnormalities occur

Tumor or Tumor-Like Lesions of


the Joints
Ganglion

Ganglion
Is a small (1-2 cm) cyst that is almost always
located near a joint capsule or tendon sheath
Most common site is around the joints of the
wrist where it appears as a firm, fluctuant,
pea-sized translucent nodule
It arises as a result of cystic or myxoid
degeneration of connective; not a true cyst

Soft Tissue Tumors and TumorLike Lesions

Lipoma
Benign tumors of fat are the most common
soft tissue tumors (uncommon intraorally)
of adulthood
The are subclassified as: conventional,
fibrolipoma, angiolipoma, spindle cell,
myelolipoma and pleomorphic

Lipoma
Some variants have chromosomal
abnormalities; e.g. spindle cell and
pleomorphic have rearrangements of 16q
and 13q
Lipomas are soft, mobile and painless and
are usually cured by simple excision

Liposarcoma
Is one of the most common sarcomas of
adulthood and appear in the 40s to 60s
They usually arise in the deep soft tissues of
the proximal extremities and
retroperitoneum and are notorious for
developing into large tumors

Liposarcoma
The well-differentiated variant is relatively
indolent, the myxoid is intermediate, while
the round cell and pleomorphic variants are
usually aggressive and frequently
metastasize; local recurrence is a common
problem with all types

Nodular Fasciitis (Infiltrative or


Pseudosarcomatous Fasciitis)
Is the most common of the reactive
pseudosarcomas
Occurs most often in adults on the forearm,
chest or back
Pts. complain of a solitary, rapidly growing,
sometimes painful mass
10-15% of cases have a history of trauma
Simple excision is usually curative

Fibromatoses

Superficial Fibromatosis
Palmar, plantar, and penile fibromatoses are
more bothersome than serious
They are characterized by nodular or poorly
defined fascicles of mature-appearing
fibroblasts surrounded by abundant dense
collagen

Superficial Fibromatosis
In the palmar variant (Dupuytren
contracture) there is irregular or nodular
thickening of the palmar fascia either
unilaterally or bilaterally (50%)
In plantar fibromatosis flexion contractures
are uncommon & involvement usually
unilateral

Superficial Fibromatosis
Penile fibromatosis (Peyronie disease) may
cause curvature of the shaft or constriction
of the urethra or both
All forms are more common in males
Surgery is the treatment of choice and some
lesions recur

Deep-Seated Fibromatosis
(Desmoid Tumors)
Biologically, these lesions lie between the
exuberant fibrous proliferations and lowgrade fibrosarcomas
Desmoids are divided into extra-abdominal,
abdominal and intra-abdominal
Intra-abdominal often occur in patients with
familial adenomatous polyposis (Gardner
syndrome)

Deep-Seated Fibromatosis
(Desmoid Tumors)
Desmoid tumors may by disfiguring and
may cause pain
Although curable by excision, they
frequently recur locally; some cases have
been treated successfully by chemotherapy
or radiation therapy

Fibrosarcoma
Are rare malignant neoplasms composed of
fibroblasts
Most common sites are: deep tissues of the
thigh, knee and trunk
Some tumors grow slowly while others are
more aggressive and tend to recur locally
after excision (some more than once);
approx. 25% may metastasize

Fibrohistiocytic Tumors

Benign Fibrous Histiocytoma


Relatively common lesion usually occurring
in the dermis and subcutis
Typically, slow-growing and painless lesion
which presents as a firm, small, mobile
nodule
Adequate treatment is simple excision

Malignant Fibrous Histiocytoma


One of the most common sarcomas of adults
(most pts. between 50-70 yrs. of age)
It is the most common type of postirradiation
sarcoma
Usually arises in deep muscular tissues of
extremities or in retroperitoneal area
Most are highly aggressive and often recur
locally & metastasize in approx. 50% of pts.

Neoplasms of Skeletal Muscle

Rhabdomyosarcoma
Is the most common soft tissue sarcoma of
childhood and adolescence
They may arise anywhere but most common
in head and neck or GU tract
Aggressive neoplasms that are treated with a
combination of surgery & chemotherapy
with/without radiation; histologic variant &
location influence survival

Tumors of Smooth Muscle

Leiomyoma
Leiomyomas are benign smooth muscle
tumors which arise most commonly in the
uterus, where they are often multiple
The lesions are well-circumscribed and slow
growing
Solitary lesions are easily cured by excision,
while multiple lesions may be so numerous as
to make surgical removal impractical

Leiomyosarcoma
Account for 10-20% of soft tissue sarcomas
They occur in adults and have a female
predilection
Most develop in the skin & deep soft tissues
of the extremities and retroperitoneum
Treatment and prognosis depends on size,
location and grade of tumor

Synovial Sarcoma
Approx. 10% of all soft tissue sarcomas
Despite name do not arise from synovial cells
but rather from mesenchymal cells about
joints & occasionally elsewhere
They are treated aggressively with limbsparing therapy; 5-yr survival rates range
from 25-62%; common mets to regional
lymph nodes, lung and skeleton