1. Bone Disease & Neoplasms Flashcards
What is the other name for Brittle Bone Disease?
Osteogenesis Imperfecta
What are the etiologies of Osteogenesis Imperfecta?
Group of Disorders of Type I Collagen Maturation
- > 90% Autosomal Dominant
- COL1A1, COL1A2 mutation
- Autosomal Recessive
What are the characteristics of the Autosomal Dominant form of Osterogenesis Imperfecta? (3)
- More common
- Compatible with survival
- History of varying degrees of bony fractures and deformity
What are the characteristics of the Autosomal Recessive form of Osteogenesis Imperfecta? (2)
Infantile - Malignant Osteopetrosis
- Severe form
- Results in still birth or severe deformity
What are the Clinical Characteristics of Osteogenesis Imperfecta? (7)
- 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
What are the oral findings in Osteogenesis Imperfecta? (3)
-
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
What is the Histopathology of Osteogenesis Imperfecta? (2)
-
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
What is the treatment of Osteogenesis Imperfecta?
-
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
What are the other names for Marble Bone Disease?
- Osteopetrosis
- Albers-Schonberg Disease
What is the pathogenesis of Osteopetrosis?
- 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
What is the other name for Infantile Osteopetrosis?
Malignant Osteopetrosis
What is the etiology of Infantile Osteopetrosis?
Autosomal Recessive
What are the clinical features of Infantile Osteopetrosis? (4)
-
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
What is the treatment for Infantile Osteopetrosis? (4)
- 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)
What is the etiology of Intermediate Osteopetrosis?
Autosomal Recessive
What are the clinical features of Intermediate Osteopetrosis? (3)
- Asymptomatic @ birth
- Fractures by 10 yrs
- Anemia and Extramedullary Hematopoiesis occur but bone marrow failure is rare
What is the etiology of Adult Osteopetrosis?
Autosomal Dominant
What is the most common type of Osteopetrosis?
Adult Osteopetrosis
Has less severe manifestations
What are the features of Adult Osteopetrosis? (4)
- 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)
What is the other name for Paget’s Disease?
Osteitis Deformans
What is the etiology/pathogenesis of Paget’s Disease?
- 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
In what population is Paget’s Disease prominent?
-
Older adults of Anglo-Saxon ancestry
- Rare < 40 yrs
- 2:1 Male predilection
When Paget’s Disease affects the jaws, which does it prefer?
- Maxillary (2:1)
- Jaws affected in 17% of cases
What classifies most cases (85%) of Paget’s Disease?
Polyostotic = affecting multiple bones
- Most commonly
- Pelvis, Femur, Tibia, Lumbar vertebrae, Skull
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.
What is the clinical feature of early lesions of Paget’s Disease?
Decreased RO with coarse trabeculae
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
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
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
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
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”
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
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.
With an Osteoma, what involvement is common?
Paranasal sinus - frontal most common
bone growth inside sinuses
What location are the jaw lesions of Osteoma’s associated with?
- Condylar Area
- Lingual Posterior Mandible - near premolars and molars
What needs to be ruled out with Osteomas of the jaw?
Gardner Syndrome
due to colon polyps that turn into cancer
What is the etiology of Gardner Syndrome?
Autosomal Dominant
- Mutation in the APC Tumor Suppressor Gene
- Makes colon polyps when TSG is knocked out
What is Gardner Syndrome characterized by?
Osteomas of Facial Bones
looks like giant bulges on pts faces
If a pt has Osteomas of the facial bones, what else should we look for?
Impacted Supernumerary Teeth or less commonly, Odontomas
Gardner Syndrome
What are the skin lesions of Gardner Syndrome?
- Epidermoid Cysts
-
Desmoid Tumors
- Locally aggressive fibrous neoplasms of soft tissue, like a Fibromatosis
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
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
What is the Treatment for Gardner Syndrome?
- Prophylactic Colectomy
- Removal of cosmetically problematic cysts and osteomas
- Genetic Counseling
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
What is the treatment for Osteoid Osteoma and Osteoblastoma?
Excision or curettage