1. Bone Disease & Neoplasms Flashcards
(113 cards)
1
Q
What is the other name for Brittle Bone Disease?
A
Osteogenesis Imperfecta
2
Q
What are the etiologies of Osteogenesis Imperfecta?
A
Group of Disorders of Type I Collagen Maturation
- > 90% Autosomal Dominant
- COL1A1, COL1A2 mutation
- Autosomal Recessive
3
Q
What are the characteristics of the Autosomal Dominant form of Osterogenesis Imperfecta? (3)
A
- More common
- Compatible with survival
- History of varying degrees of bony fractures and deformity
4
Q
What are the characteristics of the Autosomal Recessive form of Osteogenesis Imperfecta? (2)
A
Infantile - Malignant Osteopetrosis
- Severe form
- Results in still birth or severe deformity
5
Q
What are the Clinical Characteristics of Osteogenesis Imperfecta? (7)
A
- Weakened bones fracture easily and don’t heal well leading to excessive callus formation
- Mistaken for Child Abuse
- Long bone/spine deformities, bowing, fractures
- Blue Sclera
-
Other Features
- __Hearling loss = Hypoacusis
- Hyper-extensible joints
-
Wormian Skull Bones
- Like Cleidocranial Dysplasia
6
Q
What are the oral findings in Osteogenesis Imperfecta? (3)
A
-
Opalescent Teeth
- Blue-brown translucence of teeth
- Pulpal obliteration or “shell teeth”
- Clinically and radiographically identical to Dentinogeneisis Imperfecta but due to a different mutation
- Crowns tend to be bulbous
-
Class III Malocclusion
- Due to hypoplastic maxilla
- Also in Crouzon Sx
-
Mixed (RL-RO) Jaw Lesions
- Rarely occur
- Look like Cemento-Osseous Dysplasia
7
Q
What is the Histopathology of Osteogenesis Imperfecta? (2)
A
-
Failure of woven bone to mature into lamellar bone
- Resulting in immature bone throughout life
- Never gains full strength, leads to fractures
-
Dentin Abnormalities
-
Similar to Dentinogenesis Imperfecta
- Dentin is made of collagen, so it doesn’t form well, specially the dentin tubules
- Calcifications within the tubules with amorphous qualities
-
Similar to Dentinogenesis Imperfecta
8
Q
What is the treatment of Osteogenesis Imperfecta?
A
-
No cure, symptom management
- Surgery for fractures/physiotherapy
- Bisphosphonates used in moderate to severe cases
- Dental Considerations
- Severe attrition of teeth and tooth loss
- Managed like DI with FPD
- Implants used with caution
- Severe attrition of teeth and tooth loss
9
Q
What are the other names for Marble Bone Disease?
A
- Osteopetrosis
- Albers-Schonberg Disease
10
Q
What is the pathogenesis of Osteopetrosis?
A
- Osteoclasts lack the ability to remodel bone (breakdown/resorb the bone being laid down) causing the obliteration of marrow space
-
Bone deposition without resorption
- Thickening of cortical bone and sclerosis of cancellous bone
11
Q
What is the other name for Infantile Osteopetrosis?
A
Malignant Osteopetrosis
12
Q
What is the etiology of Infantile Osteopetrosis?
A
Autosomal Recessive
13
Q
What are the clinical features of Infantile Osteopetrosis? (4)
A
-
Marrow Failure
- Liver and spleen take over, and make bone marrow cells, causing them to both enlarge
- Myelophthisic Anemia resulting in Extramedullary Hematopoiesis with Hepatosplenomegaly
-
Constriction of Nerve Ostea
- Deafness + blindness (=Paget’s Disease)
-
Delayed Tooth Eruption
- __Need good bone remodeling for movement of teeth, they can’t erupt through sclerotic bone
-
Increased Bone Density
- Tubular bones become solid, brittle and fracture - can’t handle “shear stress”
- No distinction between cortical and cancellous bone = solid white bone
- Obscured tooth roots
- No PDL space
- Dense bones are easily infected due to granulocytopenia** causing **osteomyelitis
14
Q
What is the treatment for Infantile Osteopetrosis? (4)
A
- Bone Marrow Transplant
-
IFN gamma-1b with:
- Calcitriol (Vitamin D)
- Restricted calcium intake
- Steroids (not preferred tx)
- Aggressive tx of Osteomyelitis (debridement, bacterial C/S with IV antibiotics)
15
Q
What is the etiology of Intermediate Osteopetrosis?
A
Autosomal Recessive
16
Q
What are the clinical features of Intermediate Osteopetrosis? (3)
A
- Asymptomatic @ birth
- Fractures by 10 yrs
- Anemia and Extramedullary Hematopoiesis occur but bone marrow failure is rare
17
Q
What is the etiology of Adult Osteopetrosis?
A
Autosomal Dominant
18
Q
What is the most common type of Osteopetrosis?
A
Adult Osteopetrosis
Has less severe manifestations
19
Q
What are the features of Adult Osteopetrosis? (4)
A
- Axial skeleton shows sclerosis, but long bones exhibit little defect
- Bone pain often reported BUT 40% are asymptomatic
- Variable presence of fracture and/or nerve compression
- Need to rule out other causes of widespread sclerosis of jaws (DD)
20
Q
What is the other name for Paget’s Disease?
A
Osteitis Deformans
21
Q
What is the etiology/pathogenesis of Paget’s Disease?
A
- Unknown etiology
-
Increased or uncontrolled bone remodeling
- Net acumulation of bone
- Bones get bigger but not stronger
- Bones don’t mature - results in distortion and weakening of bone
22
Q
In what population is Paget’s Disease prominent?
A
-
Older adults of Anglo-Saxon ancestry
- Rare < 40 yrs
- 2:1 Male predilection
23
Q
When Paget’s Disease affects the jaws, which does it prefer?
A
- Maxillary (2:1)
- Jaws affected in 17% of cases
24
Q
What classifies most cases (85%) of Paget’s Disease?
A
Polyostotic = affecting multiple bones
- Most commonly
- Pelvis, Femur, Tibia, Lumbar vertebrae, Skull
25
What are the Clinical Features of Paget's Disease? (6)
* Dull, non-specific **pain**
* **Symmetric Enlargement**
* Increase in hat size
* "Maxillary denture won't fit"
* **Simian stance** - bowing of legs
* Spinal compression fractures
* **Deafness and blindness** due to narrowing of nerve ostea
* *Also in Infantile Osteopetrosis*
* **Extensive Hypercementosis** of teeth
* Entire arch not just an isolated tooth or quadrant.
26
What is the clinical feature of early lesions of Paget's Disease?
Decreased RO with coarse trabeculae
27
What is the clinical feature of late lesions of Paget's Disease?
* Patchy sclerosis **"Cotton-wool"** appearance with thickened cortices
* Dense RO next to RL areas
28
What are the laboratory features of Paget's Disease?
* Markedly **elevated total serum Alkaline Phosphatase** (non-specific)
* Marker of osteoblastic activity (bone turnover)
* Use serum **bone-specific alkaline phosphatase** if pt has **Liver Disease**
* Calcium and Phosphate levels are usually normal
29
What is the histology of the Osteolytic phase of Paget's Disease?
* Initial resorption with **numerous enlarged osteoclasts** (multinucleated) surrounding **irregular trabeculae**
* Bone looks more **RL**
30
What is the histology of the Osteoblastic phase of Paget's Disease?
* **Increased osteoblastic activity**, then occurs the likely **"Cotton-wool"** appearance, lacking lamellar pattern
* Entire skull is affected, *not just an isolated area like in Osteoblastoma*
31
What is the histology of the Osteosclerotic (burned out) phase of Paget's Disease?
* Marrow space replaced by **vascular fibrous CT**
* *In OP it is replaced by dense cortical bone*
* **Dense RO** bone masses with prominent reversal lines create a **"mosaic bone"**
32
What is the treatment for Paget's Disease? (3)
* **NSAIDs** for _mild pain_
* **Bisphosphonates** (oral 2-6 months) or IV forms as a single dose to _limit amount of resorption_
* Pts should be monitored for the development of **Giant Cell Tumor of Bone** as well as malignant bone tumors, especially **Osteosarcoma (1%)**
* *****Very rare to get osteosarcoma \> 40 yrs old, if so it is probs Paget's Disease*
33
What are the Dental Considerations for Paget's Disease? (5)
* Pt may report "black triangle" or diastemas
* **Difficult extractions** due to hypercementosis and ankylosis
* Place implants with caution
* **Surgical bleeding risk** duing the _osteolytic phase_, because it is more vascular.
* **Poor wound healing** with **risk for Osteomylelitis** during _osteosclerotic phase_.
34
With an Osteoma, what involvement is common?
**Paranasal sinus** - frontal most common
bone growth inside sinuses
35
What location are the jaw lesions of Osteoma's associated with?
* **Condylar Area**
* **Lingual Posterior Mandible** - near premolars and molars
36
What needs to be ruled out with Osteomas of the jaw?
Gardner Syndrome
due to colon polyps that turn into cancer
37
What is the etiology of Gardner Syndrome?
**Autosomal Dominant**
* Mutation in the **APC Tumor Suppressor Gene**
* Makes _colon polyps_ when TSG is knocked out
38
What is Gardner Syndrome characterized by?
**Osteomas of Facial Bones**
looks like giant bulges on pts faces
39
If a pt has Osteomas of the facial bones, what else should we look for?
**Impacted Supernumerary Teeth** or less commonly, **Odontomas**
_Gardner Syndrome_
40
What are the skin lesions of Gardner Syndrome?
* **Epidermoid Cysts**
* **Desmoid Tumors**
* Locally aggressive fibrous neoplasms of soft tissue, like a Fibromatosis
41
What is the most significant aspect of Garnder Syndrome?
Development of **precancerous polyps of the colon**
* 50% develop colon cancer by age 30
* 100% affected later in life
42
What do pts with Gardner Syndrome have an increased risk for?
* **Thyroid Carcinoma**
* Often gets overlooked
* **Adenocarcinoma of the Colon**
* 100% affected later in life
43
What is the Treatment for Gardner Syndrome?
* **Prophylactic Colectomy**
* Removal of cosmetically problematic cysts and osteomas
* **Genetic Counseling**
44
What is the Histology of Osteoid Osteoma and Osteoblastoma? (4)
* *Identical to each other and Cementoblastoma*
* Mineralized material with **prominent reversal lines**
* *So does Paget's Disease in the osteosclerotic phase*
* Large sheets of **irregular trabeculae** of bone with **multi-nucleated osteoclast-like giant cells** and **numerous osteoblasts**
* Loose fibrous CT with **_scattered dilated vascular spaces_**
45
What is the treatment for Osteoid Osteoma and Osteoblastoma?
Excision or curettage
46
What is the prognosis for Osteoid Osteoma and Osteoblastoma? (4)
* Good, with **low recurrence rate**
* Aggressive variants of **Osteoblastoma in older pts = higher recurrence rates**
* Rare transformation of Osteoblastoma to ***Osteosarcoma***
* _Osteoid Osteoma has no potential for malignant change_
47
Which occurs in younger pts, Osteoid Osteoma or Osteoblastoma?
**Osteoblastoma** (\<30 yrs)
Osteoid Osteoma (avg 25)
48
What is the size of Osteoid Osteomas?
\< 2cm small
49
What is the size of Osteoblastomas?
large
2-4cm --\> 10cm
50
What is associated with **nocturnal pain**, relieved by **salicylates**, becuase tumor makes prostaglandins?
Osteoid Osteoma
51
What is the radiographic appearance of Osteoblastoma? (3)
* **Expansile,** pushing teeth apart
* **Cotton-wool** appearance
* *Don't confuse with Paget's which will be diffuse and is rare in pts \< 40 yrs*
* Reactive sclerosis not always present
52
What is the radiographic appearance of Osteoid Osteoma? (3)
* **Non-expansile**
* **Well-circumscribed**, **RL outer rim**, with variably thick **reactive sclerosis in center**
* **Central RO nidus** (target-like)
* *COD, but it isn't painful*
53
What is the most common primary bone malignancy?
**Osteosarcoma**
*2x as common as Chondrosarcoma*
54
What is the pathogenesis of Osteosarcoma?
* Production of **osteoid** by **malignant mesenchymal cells**
* Must have: malignant cells + osteoid
55
What is the skeletal presentation of Osteosarcoma?
* **Fast growing** mass around **knees** in **children** and **young adults** (mean = **18 yrs**)
56
What is the classic radiographic appearance of Osteosarcoma in the long bones?
Sun-burst opacities
57
What leads to Osteosarcoma of the long bones, in older pts?
* Paget's Disease
* Radiated Bone
58
What is the most common **bone sarcoma** to happen in bone that has been **irradiated**?
Osteosarcoma
59
What is the mean age for pts to develop Osteosarcoma of the jaws?
**33 yrs**
*Skeletal is younger @ 18 yrs*
60
What is typically the initial complaint in pts with Osteosarcoma of the jaws?
* **PAIN**, followed by:
* **Swelling**
* **Loose teeth** due to PDL attachment loss
* **Paresthesia**
61
What is the radiographic appearance of Osteosarcoma of the Jaws? (3)
* **Symmetrically widened PDL**
* ****Tumor grows around the PDL and destroys it, leads to loose teeth
* Malignant bone growth **above the crestal ridge,** wispy, ill-defined
* **Fuzzy bone** - mixed lesion with ill-defined borders
62
What is the presentation of Parosteal Osteosarcoma? (2)
* Firm, bony, **mushroom** shaped growth, off the side of the jaw (red/purple)
* *DD: Kaposi sarcoma, lymphomas, leukemia*
* **Obliterates periosteum**
63
What is the presentation of Periosteal Osteosarcoma? (3)
* Elevates periosteum around it
* Forms **spicules of bone radiating out** - classic
* **Onion skinning**, layering of the periosteum
64
What is the Histology of Osteosarcoma? (3)
* Infiltrating sheets of **malignant spindle-shaped** or **angular lesional cells**
* **Direct production of osteoid or bone** required by **malignant cells**
* _3 Subtypes_
1. Osteoblastic
2. Chondroblastic
* **Most common**
3. FIbroblastic
65
What is the treatment for Osteosarcoma of the Jaws?
* Wide surgical excision with **initial complete removal** ****
* ****Most important prognostic factor
* Chemo for jaw lesions has no added benefits
66
What is the prognosis for Osteosarcoma?
* **60-70%** 5yr survival
* Death is usually due to uncontrolled local ds
67
What is the treatment for Osteosarcoma of the long bones?
1. **Neoadjuvant chemo**
* Trying to see how much necrosis will occur****
2. **Surgery**
3. **Adjuvant Chemo**
* If they saw alot of necrosis with the neoadjuvant chemo
68
Where does Osteosarcoma metastasize to?
**Lung** and **Brain**
69
Which lesions of Osteosarcoma metastasize more frequently?
**Long bone** lesions
70
Where is it common for a Chondroma to occur?
Small bones of the **hands + feet**
_Rare in Jaws_, any mature cartilaginous jaw tumor is potentially a well differentiated chondrosarcoma
71
What are the 2 instances where you can have mature cartilaginous metaplasia (above the crest of the ridge), anything else is malignant = Chondrosarcoma?
1. **Periosteum irritated** by an **ill-fitting denture = Osseous and Chrondromatous Metaplasia**
* ****Periosteum is a fibrous tissue, that here is differentiating into bone and cartilage
2. **Normal development**, normal pieces of cartilage can be left over **= Cartilaginous Rests**
* In the _anterior maxilla_, _mandibular symphysis_, _coronoid process_ + _condyle_
72
What population is typically affected by Chondrosarcoma?
**Adult Males, ~ 51 yrs**
*Osteosarcoma ~30s*
73
Where do you typically find Chondrosarcoma?
* **Pelvis, Femur, Humerus,** and **Ribs**
* Rare in Jaws
* \< 10% occur in H/N region
74
What are the symptoms of Chondrosarcoma?
* **Swelling, loose teeth**
* No pain associated
* *Differs from Osteosarcoma*
75
How do you radiographically distinguish Osteosarcoma from Chondrosarcoma?
Check the PA for **PDL Widening = Osteosarcoma**
76
How does Chondrosarcoma act, compared to Osteosarcoma?
* **Slow growing**, but **very invasive**
* **Rarely mets**
* *Osteosarcoma is faster growing and can mets to brain and lungs*
77
What is the histology of a Chondrosarcoma?
* **Invasive lobules** of **atypical cartilaginous differentiated cells**
* NO BONE, only cartialge
* *If you see bone it is Chondroblastic Osteosarcoma*
78
What is the treatment for Chondrosarcoma?
**Radical surgery** with **wide margins**
79
What is the prognosis for Chondrosarcoma? (3)
* **75%** overall 5 yr survival, depends on:
* Location, size, and grade (differentiation)
* Death is usually due to **direct extension of tumor**, involving vital structures
* *Same is true for Osteosarcoma*
* **Difficult to remove**, with **frequent recurrences up to 20 yrs later**
* _Follow For Life!_
80
At what size do chondrosarcomas have a more aggressive prognosis?
\> 10cm
81
What location of a Chondrosarcoma has a better prognosis?
**Appendicular** is better than axial
82
What is the prognosis of a Grade 1 Chondrosarcoma?
**90%** 5yr survival
## Footnote
**No mets**
83
What is the prognosis of a Grade 2 Chondrosarcoma?
**81%** 5 yr survival
84
What is the prognosis of a Grade 3 Chondrosarcoma?
Prognosis drops significantly
* **29%** 5yr survival
* Mets: **lung,** **lymph nodes**
85
What is the common location for Mesenchymal Chondrosarcoma?
**Jaws** (25%)
* *Only cartilage tumor that favors the jaws*
* May develop in _bone or soft tissue_
86
What age group is most commonly affected by Mesenchymal Chondrosarcoma?
**2nd - 3rd decade** (early 20's)
*Chondrosarcoma presents in an older population, males ~51 y.o.*
87
How does Mesenchymal Chondrosarcoma present?
* **Fast growing + aggressive**
* **Pain + swelling** (most common symptoms)
* *_Osteosarcoma_ is fast growing, with initial symptom of pain*
* *_Chondrosarcoma_ has no assoc pain, and grows slowly, but it is invasive*
88
What is the radiographic appearance of a Mesenchymal Chondrosarcoma?
Mixed, but **mostly RL** = ill-defined RL with or without stippled calcifications
## Footnote
*Chondrosarcoma will have focal opacities*
89
What is the Histology of Mesenchymal Chondrosarcoma?
* Highly cellular proliferation of undifferentiated small cells, alternating with zones of differentiated cartilaginous tissue
* **Cartilage cells + mesenchymal cells**
90
What is the treatment for Mesenchymal Chondrosarcoma?
* **Radical surgery** + possible radiation and chemo
* It is a more aggressive lesion
91
What is the prognosis for Mesenchymal Chondrosarcoma?
* **Poor**
* 5 yr survival **~50%**
* 10 yr survival ~ 30%
* **Long term follow-up** needed as **local recurrence** or **mets** (often **lungs**) may occur up to 20 yrs later
* *Just like Chondrosarcoma*
92
What is the pathogenesis of Ewing Sarcoma?
* Tumor of **undifferentiated neuroectodermal cells**
* 90% due to **EWSR1-FLI1 translocation**
* *****Detect translocation in a tumor with _FISH_, helps differentiate from other tumors with a histo of sheets of small, dark cells (Mesenchymal Chondrosarcoma, ect.)*
93
What is the population most commonly affected by Ewing Sarcoma?
* **White** (95%)
* **Males**
* **10-15 yrs**
94
What are the usual symptoms of Ewing Sarcoma?
**Pain** and **Swelling**
## Footnote
*also in Osteosarcoma and Mesenchymal Chondrosarcoma, and Metastatic Disease*
95
Where are Ewing Sarcomas located?
* **60%** in bone of **lower extremities** and **pelvis**
* ****Worst prognosis
* \< 1-2% affect the jaws
* Better prognosis
96
What is the radiographic appearance of Ewing Sarcoma?
* Patchy, ill-defined, **ragged RL**
* **1/3** show **"onion skinning"** on the surface of the involved bone due to subperiosteal bone formation
* Rare in jaw lesions
* Not pathognomonic
* *Periosteal Osteosarcoma also shows onion skinning*
97
What is the treatment for Ewing Sarcoma?
Multi-agent chemo + surgery + radiaiton
98
What is the prognosis for Ewing Sarcoma?
* **70% 5 yr survival** for localized disease
* **25%** have **metastasized @ presentation** to **lungs +** **bone**
* ****Single most important prognostic factor
* Leading to a **25%** **5 yr survival**
99
What lesions of Ewing Sarcoma have the _worst_ prognosis?
* **Pelvic lesions** have the worst prognosis
* **Proximal lesions** worse than distal lesions
* Possible better prognosis for jaw lesions
100
What is the most common **cancer involving bone**?
Metastatic Carcinoma
101
What population is more commonly affected by Metastatic Disease?
\> 50% of pts are **\> 50 yrs old**
## Footnote
*The pts are older because they had to have already developed a primary tumor*
102
What locations are affected by Metastatic Disease?
**Posterior Mandible** (61%) - **molar area**
Maxilla (24%)
Soft tissue - gingiva (15%)
103
How can metastatic deposits from _malignancies below the neck_ affect the jaws?
**Batson's Paravertebral Plexus of Veins**
* Has **no valves**
* Tumor cells can easily go **up the spinal cord** to the jaw
104
What are the most common primary tumors that metastasize to the jaw? (6)
* **Breast** or **Prostate,** usually appear _RO_
* **Lung + Kidney** (clear cells)
* **Thyroid + Colon**
105
Where are 15% of metastatic disease of the soft tissue located?
**Gingiva**
*Resembles **pyogenic granuloma*****,** but it's _firm_
106
In the soft tissue (gingiva) where do you most often see primary tumors from?
*"MLK is the breast"*
* **Melanoma**
* Lung
* Kidney
* Breast
107
What are the Signs and Symptoms of Metastatic Disease? (7)
* **Pain + Swelling**
* **Tooth mobility** *mimicking periodontal ds* with **PDL widening**
* **Trismus** - if condylar area
* **Paresthesia** - "numb-chin sign"
* *Mandibular metastasis with involvement of the mental nerve*
* Hemorrhage
* Pathologic Fracture
108
What is in the differential diagnosis of a **painful, non-healing tooth socket** with something growing out of it?
* **Granulation Tissue**
* Most often this
* **Lymphoma**
* **Metastatic Disease**
* Most often **carcinoma from another location**
109
What is the radiographic appearance of Metastic Disease?
* Poorly defined, **moth eaten RL**
* Can see some **RO if mets** of a **primary tumor** of the **breast or prostate**
* These 2 carcinomas have the potential to induce bone formation
* _ISH_ for prostate cells
110
What is the Histology of Metastatic Disease?
* Looks like **tissue of origin**
* **"Seeded Effect"**
* ****May show _diffuse infiltration_ or _scattered tumor cells_ through the CT
111
What is the treatment for Metastatic Disease? (2)
* **Palliation**, usually with **radiation therapy**
* **Bisphosphonates**
* Slow progression of bone mets
* Decrease bone pain and fracture risk
112
At what stage does Metastatic Disease usually appears in the oral cavity?
**Stage IV** - widely disseminated
113
What is the prognosis for pts with Metastatic Disease?
**Very Poor**
Most pts **die within 1 yr** of the dx
