THE MUSCULOSKELETAL

SYSTEM AND DISORDERS

dr. Sahrun

I DISEASES OF BONE
1. CONGENITAL & HEREDITARY DS OF BONE
2. OSTEOPOROSIS & ACQUIRED METABOLIC DS
3. OSTEOMYELITIS
4. PAGET DS (OSTEITIS DEFORMANS)
5. BONE TUMORS

II DISEASES OF THE JOINTS

1. OSTEOARTHRITIS
2. GOUT
3. INFECTIOUS ARTHRITIS

III.DISEASES OF SKELETAL MUSCLE

1. MUSCLE ATROPHY
2. MYASTHENIA GRAVIS
3. INFLAMMATORY MYOPATHIES
4. MUSCULAR DYSTROPHIES

IV SOFT TISSUE TUMORS

1.TUMORS OF ADIPOSE TISSUE
2.TUMORS & TUMOR-LIKE LESION OF FIBROUS TISSUE
3.FIBROHISTIOCYTIC TUMORS
4.NEOPLASMS OF SKELETAL MUSCLE
5.SMOOTH MUSCLE TUMORS

I DISEASES OF BONE
1. Congenital & Hereditary Diseases of Bone
- Congenital ds (structural lesions) :aplasia, extra
bones, abnormal fusion of bones
a. Achondroplasia
- AD, impaired maturation of cartilage in developing
growth plate
- cartilaginous g.p : hypoplastic / disorganized
aggregates of chondrocytes
b. Osteogenesis Imperfecta/Brittle bone disease
- AD,AR, abnormal development of type I collagen
- multiple bone fracture,hearing loss,blue sclera

c. Osteopetrosis / Marble Bone Disease

- AD,AR, deficient osteoclastic activity
- deposition abnormally thickened,heavy
mineralized,
fracture, marrow space, cranial nerve palsie

2. Osteoporosis & Acquired Metabolic

Diseases
a. Osteoporosis
- pathogenesis : imbalance bone form. & resorption
(age,
hormonal/estrogen,genetic,mechanical,diet)

Fig 21-2
Scanning electron micrograph of a normal bone (A) and a bone with osteoporosis (B)

b. Rickets and Osteomalacia

- vit.D deficiency, defective mineralization of bone
c. Bone Diseases Associated with
Hyperparathyroidism
- PTH : calcium homeostasis
osteoclast activation, bone resorption
- Morphology :erosion bone surfaces, loose fibrovascular tissue in marrow space,hemosiderin,
brown
tumor(collection osteoclast,reactive giant
cell,hemor
rhagic debris)

3. Osteomyelitis
- inflammation of the bone & marrow cavity by
infectious agents, acute/ chronic
a.Pyogenic osteomyelitis
- morphology :
acute : neutrophilic, necrotic
chronic :chronic
inflamm.cell,repair(osteoclast,fibro
blast,new bone),sequestrum(residual necrotic
bone)
involucrum(large sequestra, rim reactive bone)
b.Tuberculous Osteomyelitis

Fig 21-3 Resected femur from a patient with chronic osteomyelitis

4. Paget Disease (Osteitis Deformans)

- pathogenesis : ? Paramyxovirus
3 phases :
* primary (osteolytic) phase : osteoclastic act,
bone loss,marrow : highly vascular
connective tissue,bony trabeculae lined by
huge osteoclast
* mixed osteoclastic & osteoblastic phase
* osteosclerotic phase : woven bone (new
bone, lamellar - ), mosaic pattern/ jigsaw
puzzle

Fig 21-4 Paget disease of bone

Fig 21-5 Paget disease, mosaic lines between areas of new bone formation

5.Bone Tumors
a.Bone - Forming Tumors
a.1 Osteoma
- hard,exophytic
- micros : bland mixture woven & lamellar
bone
a.2 Osteoid Osteoma & Osteoblastoma
- morphology: nidus, trabeculae woven bone,
osteoblast, loose vascular connective
tissue, giant cells

a.3 Osteosarcoma / Osteogenic Sarcoma

- cause : most unknown
- morphology :
- large, ill-defined, metaphyseal, Codman tr.
- osteoid (must be present),neoplastic cell
(spindle,pleomorphic,bizarre)
hyperchromatic
- mitotic nuclei, giant cell

Fig 21-6 Osteosarcoma in the metaphyseal region. Growth

through the cortex and elevated the periosteum.

Fig 21-7 Osteosarcoma. Pleomorphic, mitotically active,

calcified osteoid

b. Cartilaginous Tumors
b.1 Osteochondroma (exostoses)
- mature bone & a cartilaginous cap
b.2 Chondroma ( Enchondroma)
- mature hyaline cartilage, within medullary
cavity
b.3 Chondrosarcoma
- morphology : medullary cav, glistening
mass
erodes the cortex, well-diff (minimal
cytologic
atypia)-poorly diff ( highly pleomorphic
chondrocytes),multinucleate cell, 2/>
cell/lacuna

Fig 21-8 Osteochondroma. Characteristic of

glistening cartilaginous cap

Fig 34 (WHO) Osteochondroma. Male, 13 years,ilium.

A. Photograph of specimen
B. Photograph of specimen
C. Radiograph of specimen

Fig 36 (WHO) Osteochondroma

Fig 21-9 Chondrosarcoma.Cartilage formation glistening,

gray-blue, infiltrated the medullary cavity,
invaded the overlying cortex.

Fig 54 (WHO) Chondrosarcoma

II DISEASES OF THE JOINTS

1.Osteoarthritis (Degenerative Joint Disease)
- fundamental feature : deg.of articular cartilage
- morphology :
enlargement & disorganization chondrocyte
fibrillation/ splitting
complete eroded of articular cartilage
cysts within the bone (leak of synovial fluid)
osteophyte : bony excrescence & prolif.at the
margin
non specific inflammation

Fig 21-13 Osteoarthritis. Characteristic fibrillation of

the articular cartilage.

2. Gout
- tissue accumulation of excessive amounts of
uric acid
& end product of purine metabolism
Morphology :
acute arthritis: deposition monosodium urate
crystal
in synovial tissue,neutrophilic infiltrate, local
congestion & edema
chronic tophaceous arthritis :
- tophus
Gouty nephropathy

Fig 21-18 Gouty tophus.

3. Infectious Arthritis
a. Acute Suppurative Arthritis
- most : bacteria( Go,Staph,Strep, H.influenzae)
b. Lyme Disease
- spirochete Borrelia burgdorferi, rodent, deer
tick
- multiple organ systems, 3 stage : ( figure 2119)

III DISEASES OF SKELETAL MUSCLE

1.Muscle Atrophy
a. Neurogenic Atrophy
- deprived of normal innervation skeletal muscle
fibers
- Morphology :
- sharply angular & atrophic, type I & II fibers
- small group atrophy(small cluster atrophic
fibers)
- fiber type grouping (loss of randomness, backtoback aggregation of muscle fibers of the same
histochemical type)

Fig 21-20 Neurogenic atrophy in skeletal muscle

b.Type II Myofiber Atrophy

- disuse atrophy
- morphology : ~ denervation atrophy (angular &
atrophic, group atrophy - , special enzyme stain
+
only for fast-twitch / type II)

2.Myasthenia Gravis
- acquired autoimmune disorder of
neuromuscular
transmission
- 90% AB to acetylcholine receptor
- clinic: muscle weakness,latter part of the day,
slowly progressive

3. Inflammatory Myopathies
- Trichinosis :
ingestion inadequately cooked meat ( >
pork)
Trichinella spiralis cyst duodenum/jejunum
wall
bloodstream different site
skeletal muscle : inflammatory reaction

4. Muscular Dystrophies
Duchenne and Becker Muscular Dystrophy
- DMD : X-linked, absence of dystrophin
- BMD : X-linked, mutation in dystrophin gene,
abnormal form of dystrophin, less severe
- morphology :
marked variation in muscle fiber size
(concomitant
hypertrophy & atrophy myofibers)
degenerative changes (splitting & necrosis)
regeneration(sarcoplasmic basophilia, nuclear
enlargement, nucleolar prominence)
connective tissue throughout the muscle

Fig 21-22 Muscular dystrophy.The muscle fibers vary

considerably in size and shape. Interstitial connective tissue
is increased.

Fig 21-23 A.Normal, uniform distribution of dystrophin in the

skeletal muscle membrane.
B.BMD, dystrophin staining is weak and irregularly
distributed.
DMD, completely absent.

IV SOFT TISSUE TUMORS

1. Tumors of Adipose Tissue
a. Lipoma
- Classification of soft tissue tumors : table 214
- morphology :
soft, yellow, well-less circumscribed
mature adipose tissue
b.Liposarcoma
- adult, decade 5-6, deep soft tissue/visceral
site

Fig 24 (WHO) Intramuscular lipoma. Male, 55 years, back

2.Tumors &Tumor-Like Lesion of Fibrous

Tissue
Fibrosarcoma
- morphology: herringbone pattern(interlacing
fascicle
of fibroblast), 4 grade ( cellularity,
pleomorphism,
mitotic activity)

3. Fibrohistiocytic Tumors
a.Fibrous Histiocytoma (BFH)
b.Dermatofibrosarcoma Protuberans
- Intermediate
c. Malignant Fibrous Histiocytoma

Fig 21 (WHO)

Fibrosarcoma. Male, 19 years, medial thigh.

Fig 21-25 Malignant Fibrous Histiocytoma containing a mixture

of atypical spindle cells and bizarre neoplastic giant cells.

4. Neoplasms of Skeletal Muscle

a.Rhabdomyosarcoma
- infancy, childhood & adolescence
Embryonal Rhabdomyosarcoma
- most,head & neck, g.urinary tract,
retroperitoneum
- morphology :soft, gelatinous, grapelike (sarcoma
botryoides), small primitive cell,eccentric
eosinophilic
straplike cell processes, cambium layer
Alveolar Rhabdomyosarcoma
Pleomorphic Rhabdomyosarcoma

Fig 49 (WHO) Rhabdomyoma

Fig 51 (WHO) Embryonal rhabdomyosarcoma

(botryoid type).Female, 1,5 years, vagina

Fig 58 (WHO) Alveolar rhabdomyosarcoma.

Male, 12 years, thigh.

Fig 60 (WHO) Pleomorphic

rhabdomyosarcoma. Male, 72 years, arm.

5. Smooth Muscle Tumor

- benign : leiomyoma ( > uterus)

- malignant : leiomyosarcoma(>uterus,GIT)
Fig 41 (WHO) Leiomyoma. Male, 31 years, inguinal