Developmental Bone Diseases Quiz

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

Which of the following is NOT classified as a developmental disease of bone?

Fibrous dysplasia (correct)

Osteopetrosis

Cherubism

Cleidocranial dysplasia

What is the genetic inheritance pattern of cherubism?

Mitochondrial

X-linked dominant

Autosomal dominant (correct)

Autosomal recessive

The appearance of individuals with cherubism is mainly due to:

Excessive bone formation

Decreased osteoclast activity

Loss of bone replaced by fibrous tissue (correct)

Cartilage overgrowth

What gene mutation is primarily responsible for cherubism?

SH3BP2 Signup and view all the answers

Which cellular activity is increased due to the SH3BP2 gene mutation in cherubism?

Both osteoblast and osteoclast activity Signup and view all the answers

Histologically, what is a characteristic feature of cherubism lesions?

Numerous multinucleated giant cells in fibrous stroma Signup and view all the answers

The multinucleated giant cells in cherubism are positive for which enzyme?

Tartrate-resistant acid phosphatase Signup and view all the answers

Which of the following is NOT a neoplastic bone disease?

Osteomyelitis Signup and view all the answers

Which of the following is NOT considered a known etiological factor in bone diseases characterized by uncontrolled alternating resorption and deposition?

Metabolic disturbances Signup and view all the answers

What is a distinct histological characteristic of bone affected by uncontrolled alternating resorption and deposition, often described as a "jigsaw puzzle" or "mosaic" appearance?

Presence of basophilic reversal lines in bone Signup and view all the answers

Which cell type is characteristically proliferated in Langerhans cell disease?

Langerhans's cells Signup and view all the answers

What is the name of the unique rod/racquet shaped granules found within the cytoplasm of Langerhans's cells?

Birbeck granules Signup and view all the answers

Which protein do Langerhans's cells stain positively for, aiding in their diagnostic distinction from normal histiocytes?

S-100 protein Signup and view all the answers

What key feature is used to classify central giant cell granulomas as a non-neoplastic lesion?

The reparative nature of the cells within the lesion Signup and view all the answers

Which cell type primarily forms the basis of giant cells found in central giant cell granulomas?

Osteoclasts Signup and view all the answers

Aneurysmal bone cysts are most often observed in which of the following locations?

Long bones and vertebrae Signup and view all the answers

Which of the following best describes the primary cause of osteopetrosis?

Defective bone remodeling due to impaired osteoclast function. Signup and view all the answers

Which of these is a synonym of Osteogenesis Imperfecta?

Lobstein's Disease Signup and view all the answers

What is the main underlying issue in Osteogenesis Imperfecta?

Impaired collagen maturation and synthesis, specifically of type I collagen. Signup and view all the answers

What is the key feature observed in the bone histology of osteopetrosis?

Tortuous lamellar trabeculae replacing cancellous bone and globular amorphous bone deposition in marrow spaces. Signup and view all the answers

Which of the following best describes the osteoclasts in Osteopetrosis?

Increased, decreased or normal in number, but nonfunctional. Signup and view all the answers

Which of the following is a characteristic finding in the bone of a patient with Osteogenesis Imperfecta?

Abnormal collagen synthesis by abnormal osteoblasts and reduced bone mass. Signup and view all the answers

Which of these is the primary site affected by Paget's disease?

Areas of both resorption and deposition. Signup and view all the answers

A patient's bone biopsy shows thin cortical bone and delicate cancellous bone with microfractures. Which disorder best fits this description?

Osteogenesis Imperfecta Signup and view all the answers

What is a key characteristic of the trabeculae found in the lesions described in the provided content?

They possess a unique curvilinear shape, resembling Chinese script, and are not interconnected. Signup and view all the answers

What is the primary tissue type characteristically seen in the early stages of cemento-osseous dysplasia?

Fibroblastic proliferation, possibly with initial osteoid formation. Signup and view all the answers

Which of the following best describes the relationship between the lesion and the surrounding normal bone when the lesion is present?

The lesion and normal bone fuse directly with no capsule or line of separation. Signup and view all the answers

What is the typical composition of the calcified material found in ossifying fibromas?

A mix of irregular osteoid trabeculae, and basophilic, globular calcifications resembling cementum. Signup and view all the answers

What is the suggested origin of cemento-osseous dysplasias based on their proximity to a specific dental structure?

Developing from the periodontal ligament due to their close proximity and similarity. Signup and view all the answers

What is characteristic about the jaw and skull lesions when compared with similar skeletal lesions in the context mentioned?

They are more ossified, compared to lesions in the rest of the skeleton. Signup and view all the answers

In fibro-osseous lesions, which of the following features will most likely NOT be seen?

A capsule or demarcation from surrounding tissues. Signup and view all the answers

Which of the following best describes the final stage of cemento-osseous dysplasia?

A lesion composed of dense, mineralized tissue. Signup and view all the answers

What is the primary distinction between juvenile ossifying fibroma (JOF) and ossifying fibroma (OF) based on?

Age incidence, site predilection, and clinical behavior Signup and view all the answers

Which of the following best describes the mineralized component of trabecular Juvenile Ossifying Fibroma (JOF)?

Irregular strands of osteoid lined by plump osteoblasts Signup and view all the answers

What distinguishes the mineralized material in psammomatoid Juvenile Ossifying Fibroma (JOF)?

Concentric, lamellated, and spherical ossicles with basophilic centers and eosinophilic osteoid rims Signup and view all the answers

Which of the following is NOT typically considered a neoplastic disease of bone?

Tori Signup and view all the answers

What distinguishes compact osteoma from cancellous osteoma?

Amount of marrow tissue and bone structure Signup and view all the answers

Where are osteomas commonly located?

Craniofacial skeleton Signup and view all the answers

Which type of cell is primarily responsible for the development of osteosarcoma?

Mesenchymal cells capable of producing osteoid Signup and view all the answers

Besides osteoid, what other materials might be seen in osteosarcoma?

Chondroid and fibrous material Signup and view all the answers

Osteosarcomas are classified based upon the relative amounts of which three components produced by the tumor?

Chondroid, osteoid, and fibers Signup and view all the answers

Which type of osteosarcoma is characterized by the presence of neoplastic cartilage merging with tumor bone?

Chondroblastic osteosarcoma Signup and view all the answers

A benign tumor composed of mature hyaline cartilage, commonly found in short bones of hands and feet, is known as:

Chondroma Signup and view all the answers

Which feature is NOT typically associated with the histopathology of a chondroma?

Abundant eosinophilic matrix Signup and view all the answers

Which of the following best describes a chondrosarcoma?

A malignant tumor characterized by cartilage formation, but not bone, by the tumor cells Signup and view all the answers

Which of the following is a histologic feature of chondrosarcoma?

Proliferation of atypical chondrocytes that permeate medullary spaces Signup and view all the answers

The histogenesis of Ewing's sarcoma is:

Of neuroectodermal origin Signup and view all the answers

Which of the following best describes the cellular arrangement in Ewing's sarcoma?

Composed of small round cells proliferating in sheets without pattern Signup and view all the answers

Study Notes

Diseases of Bones & Joints

Diseases of bones and joints are categorized into developmental, endocrine, idiopathic, reactive, fibro-osseous, inflammatory, and neoplastic diseases.

Classification of Diseases of Bone

Developmental Diseases:
- Cherubism
- Osteopetrosis
- Osteogenesis imperfecta
- Cleidocranial dysplasia
Endocrine Diseases:
- Hyperparathyroidism
Idiopathic Diseases:
- Idiopathic osteosclerosis
- Massive osteolysis
- Langerhan's cell disease (Histiocytosis-X)
- Paget's disease
Reactive Diseases:
- Giant cell lesion of bone
- Aneurysmal bone cyst
- Simple/Traumatic bone cyst
Fibro-osseous Lesions:
- (i) Non-neoplastic lesions:
  - Fibrous dysplasia
  - Cemento-osseous dysplasia
- (ii) Neoplasms:
  - Ossifying fibroma
Inflammatory Diseases:
- (i) Specific:
  - Tuberculosis
  - Actinomycosis
- (ii) Non-specific:
  - Osteomyelitis
  - Dry socket
  - Periapical cyst/abscess/granuloma
  - Osteoradionecrosis
Neoplastic Diseases:
- (i) Benign:
  - Osteoma
  - Osteoid osteoma & osteoblastoma
  - Chondroma
  - Chondromyxoid fibroma
- (ii) Malignant:
  - Osteosarcoma
  - Ewing's sarcoma
  - Chondrosarcoma

Developmental Disorders

Cherubism:
- Rare developmental jaw condition
- Autosomal dominant trait
- Bilateral occurrence
- Child appears plump, cheeked, "cherubic"
- Jaw lesions remit spontaneously during puberty
- Associated with facial deformity and malocclusion
Osteopetrosis:
- Rare disease
- Excessive density of all bones
- Obliteration of marrow cavities
- Defective bone remodeling due to failure of osteoclasts
- Poor mechanical properties of bone.
Osteogenesis Imperfecta:
- Developmental, inherited bone disorder
- Autosomal dominant or recessive pattern
- Connective tissue disorder with bone fragility
- Genetic defect in collagen maturation/synthesis of type I collagen
Cleidocranial Dysplasia:
- Developmental bone disorder

Pathogenesis of Cherubism

Due to mutation in SH3BP2 gene mapped to chromosome 4p16.
This mutation increases osteoclast and osteoblast activity during tooth eruption.

Histological Features of Cherubism

Normal bone is partially replaced by pathological tissue.
Numerous multinucleated giant cells and vacuoles are observed within fibrous connective tissue stroma.
Freshly harvested osteoclasts are also present.

Pathogenesis of Osteopetrosis

Mutation in SH3BP2 gene on chromosome 4p16.

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Description

Test your knowledge on developmental diseases of bone, focusing on conditions like cherubism and their genetic underpinnings. This quiz covers key characteristics, histology, and differentiating factors between various bone diseases. Dive into the complexities of bone pathology and expand your understanding.