an impaired maturation of cartilage in the developing growth plate that affects all bones formed from cartilage and is a major cause of dwarfism
Describe the body of a person with achondroplasia
Shortening of PROXIMAL extremities, bowing of legs, and LORDOSIS.
What is the most common disease of the growth plate?
Achondroplasia
What causes achondroplasia?
A mutation in the FGF receptor 3, which suppresses cartilage growth
What is the msot common form of lethal dwarfism?
Thanatophoric dwarfism
What does a person with thanatophoric dwarfism look like?
shortening of the limbs, frontal bossing, macrocephaly, small chest cavity, bell shaped abdomen
What is the usual cause ofdeath in a person with thantophoric dwarfism?
respiratory depression (occurs near birth)
OI is an abnl development of what?
Type 1 collagen
What is the most common inherited connective tissue disorder?
OI
What is marble bone dz?
Osteopetrosis
What is Albers-Schonberg Disease?
Osteopetrosis
What is osteopetrosis?
An impaired formation of function of the osteoclasts that leads to decreased bone resorption
What are signs of osteopetrosis?
diffuse symmetric skeletal sclerosis
many fx
bones lacking a medullary canal
Ends of long bones are bulbous and misshapen
When do the different forms of osteopetrosis develop?
Severe infantile malignant: evident in utero or soon after birth
Mild autosomal dominant benign form: adolescence or adulthood
Bones with cup shaped deformity on xray and an accumulation of unmineralized bone
Osteomalacia-rickets
Replacement of bone by loose connective tissue
Hyperparathyroidism
Bacterial causes of ostemyelitis
staph, e coli, klebsiella, proteus
cause of osteomyelitis in sickle cell pts
salmonella
cause of osteomyelitis in newborns
H flu
cause of osteomyelitis in IVDA
pseudomonas
Pott's Disease
Presentation of extrapulmonary TB that most commonly occurs in the vertebral bodies.
Subperiosteal abscesses
Acute osteomyelitis, neutrophilic inflammation
Brodies abscess
abscess surrounded by sclerotic bone found in chronic osteomyelitis
What age range of patients gets Pagets?
55+
Where in the world is Paget's more common?
England, Australia, , N. Europe
Where in the body does Paget's affect?
L-S spine, pelvis, femur, skull
What causes Paget's?
Possible viral etiology
Paget's Disease may lead to what?
Osteosarcomas
What is the osteolytic phase of Paget's?
marrow replaced by CT with osteoclasts
What is the mixed phase of Paget's?
bone resportion and bone formation
What is the osteosclerotic phase of Pagets?
irregular bone deposition causing a mosaic pattern. Bone is abnormal.
What age group is affected by osteomas?
40-50
Where are osteomas most commonly located?
flat bones of skull and face, may protrude into the sinuses
What tumors are associated with Gardner's syndrome?
Osteomas
How dangerous are osteomas?
Are not malignant, primarily cause cosmetic defects
What age group is affected by osteoid osteomas?
10-30 yo
Where are osteoid osteomas most commonly found?
femur, tibia in metaphysis
Which tumors are painful and relieved by aspirin and high levels of prostaglandins?
Osteoid osteoma
What is the biggest difference between an osteoid osteoma and an osteoblastoma?
An osteoblastoma is painless, while an osteoid is painful
What is the most common primary bone malignancy?
Osteosarcomas
What ages are affected by osteosarcomas?
10-25, second peak after 40 yeras do to Pagets
Where are osteosarcomas located?Metaphysis, loewr femur and upper tibia (around knee joint), shoulder, and hip girdle can be affected, as well as the mandible
What is Codman's triangle?
An elevation of periosteum seen in osteosarcomas
What is the most common site of metastasis of osteosarcomas?
lung
What predisposes one to osteosarcomas?
Pagets (>50)
Radiation, chemo
Trauma does not cause but brings it to attention
What age ranges are affected by chondroblastomas?
10-20
Where in the bone do chondroblastomas arise?
Epiphyseal: distal femur, proximal humerus
Who are affected by chondromyxoid fibromas?
young adults
Where in the bone do you find chondromyxoid fibromas?
long bones, small bones of feet
Who is affected by chondrosarcomas?
30-60 yo
Where are chondrosarcomas found?
in the bM of elbows, ribs, shoulder
Who is affected by Giant cell tumors?
FEMALES more than male, 20-30 yo
Where are most giant cell tumors located?
Metaphyseal-epiphyseal junction in the ends of bones (lower femur, upper tibia, lower radius)
Who is affected by Ewing's sarcoma?
5-20yo
Where are Ewing's sarcomas found?
long bones, pelvis, ribs, vertebrae
What is the mutation involved in Ewing's Sarcomas?
t(11;22)
Where do Ewings sarcomas arise?
The medullary cavity but may involve the entire long bone
What does Ewing's Sarcoma look like microscopically?
small blue cell tumors with very dense cellular portion of tissue. cells look monomorphic, with some wrinkling in them.
Who is affected by chordomas?
40-50yo
Where are chordomas found?
Vertebral bodies, discs, sacrum
Splenooccipital area in children
What is the most common primary tumor of bone, skull, spine, ribs?
What is the genetic cause of both Duchennes and Beckers MDD?
X linked disorder involving structural protein dystrophin
What are the differences between Beckers and Duchennes?
Beckers' clinical manifestations are less severe, and sx progress more slowly. Dystrophin is present but in abnl form. (in Duchenne's it was missing)
What is the underlying disorder with myasthenia gravis?
it is an autoimmune disorder where there are Abs to acetylcholine receptors; often displaying thymic hyperplasia or thymomas
What is the most common soft tissue tumor?
lipoma
What is the most common soft tissue sarcoma in adults?
malignant fibrous histiocytoma
What is the most common type of postirradiation sarcoma?
malignant fibrous histiocytoma
what is the most common soft tissue sarcoma in the pediatric population?
rhabdomyosarcoma
What is the most common form of rhabdomyosarcoma?
embryonal
What is a dermatofibrosarcoma protuberans?
A cross between a benign fibrohistiocytic tumor, and a malignant fibrous histiocytoma
Whare are DFPs located?
dermis and subcutanous tissue
What lesion is pathonogmonic for DFP?
fibroblastic cells in a storiform pattern
What is a fibrosarcoma?
A malignant tumor located in the DEEP tissues of the thigh, knee, and trunk, that may grow slowly over yeras and met to the lungs
What do you see microscopically with a fibrosarcoma?
spindle shaped cells that are very cellular with few mitotic figures present
What do you see microscopically with a fibrous histiocytoma?
interlacing spindle cells
What do you see microscopically with a synovial sarcoma?
It has a biphasic pattern with an epithelial component and spindle cell component (glandular structures surrounded by spindle shaped cells)
What is nodular fascitis?
A painful, reactive fibroblastic proliferation found in young adults that is composed of plump, immature fibroblastic cells
What is a lipoma?
A soft tissue tumor in the subcutaneous tissue of adults that is slowly growing and composed of a soft yellow mass of mature adipose tissue
What is a liposarcoma?
A malignant tumor of ofadipocytes that peaks in the 5th to 6th decades, and is found in DEEP soft tissue or verisceral sites of the LE and abdomen.
What is an adamantinoma?
A rare bone tumor found in the tibia, femur, ulna, and fibula characterized by a poorly defined lytic lesion with sclerosis outline lucent areas and spindle cells surrounding basaloid cells
how serious is an adamantinoma?
it's a low grade malignancy with local recurrences but rarely mets
Which tumors are vascular but can be seen in bone?
hemangiomas, and they are common in the skull, vertebrae, and jaw
Where is prostate cancer common and uncommon?
Common in Scandinavian countries, uncommon in Japan and certain Asian countries
Where does most prostate cancer arise?
in the outer or peripheral glands
What type of tumors are prostate cancer mostly?
adenocarcinomas until proven otherwise
How soon does prostate cancer spread?
early
What do glands look like in prostate ca?
They lie back to back with little to no intervening stroma
conspicuous nucleoli
absent basal layer
How is the Gleason score calculated?
Based on architecture, glandular differentiation and nuclear features
Take the best architectual feature and worst architectual feature and add them (after grading them).
Gleasons of 6 are relatively common
Prostate mets are usually.....
osteoBLASTic
What can elevate PSA?
hyperplasia, prostatitis, or carcinoma
sex, ejaculation, DRE
What should your PSA be if you are under 50?
2.5
T/F: PSA value is enhanced when combined with other procedures and are good at evaluating treatments
True
Which testicular tumors tend to met earlier?
non seminomatous germ cell
T/f: most testicular tumors are benign
false
What is the most common primary testicular tumor in children under age 3?
Yolk sac tumors
What is the most common testicular tumor?
Seminoma
What do testicular seminomas look like?
Large soft great white tumors
Pts with seminomas have what kind of lab values?
elevated HCG
Which testicular cancers are benign?
teratomas (mostly)
Compare and contrast acute and chronic prostatitis and inflammation
Acute: neutrophil, chronic=lymphocytic
Which type of prostatitis is an important cause of recurrent UTI?
chronic prostatitis
What effect does achondroplasia have on intelligence/longetivity/reproduction?
None
What is the basic structural defect of thanatophoric dwarfism?
Decreased proliferation of chondrocytes in the growth plate
What age does OI affect?
Affects in utero (severe) or mildly affects children who lead nl lives into adulthood
What are the teo forms of osteopetrosis?
Autosomal dominant and autosomall fecessive
How does osteopetrosis affect the nervous system?
neural foramina are small and compress nerves
How does osteopetrosis manifest itself in the bone?
Deposited bone is not remodeled, and is woven into the architecture
What does autosomal recessive osteopetrosis manifest itself as?
severe infantile malignant osteopetrosis
What are clinical features of autosomal recessive/severe infantile osteopetrosis?
anemia, hydrocephaly, fx
What does autosomal dominant osteopetrosis manifest itself as?
will pop up in adolescence or adulthood due to repeated fx, some anemia and CN deficits if the foramina are narrowed
How does estrogen withdrawal affect bone?
increases bone loss and decreases bone synthesis
What is the genetic component of osteoporosis?
VDR
Accumulation of blood/hemosiderin in the bone that resembles a tumor but isn't
Brown tumor
Pott's disease is the TB version of what?
Osteomyelitis
What are Paget's sx?
they are usually asx
What lab is elevated in Pagets?
serum alk phos
How does Paget's affect the CV system?
leads to hypervascular bone lesions, characterized by warm skin and increased CO (which can lead to CHF)
How does Paget's affect the head?
it enlarges it, leading to HA, visual disturbances, and deafness
What kind of fx are featured in Pagets?
transverse fx of the long bones
Which two lesions have niduses?
Osteoid Osteoma and osteoblastomas
Which lesion has satellite nodules?
Osteosarcomas
How do osteosarcomas met?
via the blood
Which lesions feature exostoses?
osteochondromas
How do osteochondromas grow?
opposite direction of the joint
Which lesion features a cap of cartilage with bone underneath?
osteochondromas
What two lesions are associated with Gardners?
Osteoid osteomas and multiple osteochondromas
What does a chondroblastoma show on xray?
chicken wire pattern (immature cartilage)
What do xray findings of a chondrosarcoma show?
osteolytic lesions with areas of calcification and two or more nuclei per cell
What lesion is associated with atherosclerosis?
Giant cell tumors
Where do Ewings met to?
lungs, bones, CNS, LN
How dangerous is a chordoma?
malignant, destroy bone
What do chordomas look like microscopically?
phsalifersous cells (large tumor cells with bubbly cytoplasm);
cells that grow in cords and lobules separated by a mucoid matrix
chordomas
What lesion is associated with McCune Albright?
fibrous dysplasia
Where do bone mets m/c come from?
breast, lung, prostate
Where are bone mets usually found?
axial skelton 70%, extremities 30%
What is gouty nephropathy?
Uric acid crystals may obstruct renal tubules
What are signs of neurogenic muscular atrophy?
myofibers appear angular and atrophic, and increased activit of some enzymes
Which dystrophy features calf muscle enlargement?
Beckers
When do Duchenne's pts die?
20s usually due to respiratory problems
Where do fibrosarcomas met to?
hematogenously to the lungs
Interlacing spindle cells
fibrous histiocytoma
What do rhbadomyosarcomas look like?
grape like masses
What are rhabdomyosarcomas aka?
sarcoma botyroides
Where are leiomyomas found?
uterus
Where are leiomyosarcomas found?
malignant, seen in uterus and GIT
What kind of cells do synovial sarcomas arise from?
mesenchymal cells around joint cavities, NOT synovial cells
What mutation is associated with synovial sarcomas?
