Bones, Robbins (Daen)

Leontiasis ossea.

Men, who are affected three times more often than women.

Types II, IX, X, and XI collagen.

Reduced bone resorption and diffuse symmetric skeletal sclerosis due to impaired osteoclast function.

Osteoclast attachment and resorption, osteoblast attachment and proliferation, matrix synthesis.

Mechanical support, transmission of forces, protection of viscera, mineral homeostasis, and niche for blood cell production.

Bone matrix.

Localized problems of mesenchyme migration and condensation, often due to mutations in transcription factors.

Extensive new bone formation that obscures much of the underlying osseous structure.

Whites more than blacks.

75% occur in persons younger than 20 years old, and 25% occur in older adults with predisposing conditions.

In the metaphyseal region of long bones, particularly around the knee (distal femur, proximal tibia).

Polymorphisms.

Insufficient calcium intake.

Estrogen deficiency leads to increased bone resorption.

Primary, intramedullary, osteoblastic, and high grade, arising in the metaphysis of long bones.

Multiple hereditary exostosis syndrome, an autosomal dominant hereditary disease.

Predominantly Type I collagen with small amounts of glycosaminoglycans and other proteins.

Dual energy x-ray absorptiometry, quantitative CT, or biopsy.

A lytic focus of bone destruction surrounded by a zone of sclerosis.

They are treated with neoadjuvant chemotherapy and surgical excision, with a 5-year survival of 75%.

Resistance exercises such as weight training.

In the epiphysis, mostly around the knee (distal femur, proximal tibia).

It has multiloculated blood-filled cystic spaces and is often eccentric and expansile.

Generally occurs during the first two decades of life.

Common metaphyseal fibrous defects found in 30-50% of children older than 2 years.

Pain.

Heterozygous mutations in IDH1 and IDH2 genes.

Marked cortical thinning, attenuated trabeculae, improper modeling, and persistent foci of hypercellular woven bone.

It increases the rate of bone loss.

Septic and suppurative arthritis.

Hyaline cartilage and intervertebral discs.

Chronic inflammatory cells.

Monostonic (15%) and Polycystonic (85%).

0.7% per year.

Aplasia (absence of bone), supernumerary digits (extra bones), syndactyly (abnormal fusion of bones).

Compression of spinal and cranial nerve roots.

The inorganic moiety hydroxyapatite.

Attenuated cellular response to growth factors and low turnover variant.

A unit of coupled osteoblast and osteoclast activity on the surface.

206 bones, making up 12% of body weight.

Cell-cell interactions and cytokines, including RANK, RANKL, and Osteoprotegerin (OPG).

It activates the transcription factor NF-κB essential for generation of osteoclasts.

Normal bone histology that is decreased in quantity.

Avascular necrosis that often stems from fractures or corticosteroid administration.

Mazabraud Syndrome and McCune Albright Syndrome.

Benign tumors of hyaline cartilage that arise within the medullary cavity or on the surface of the bone.

A combination of antibiotics and surgical drainage.

Active visceral disease.

Anterior bowing of femur and tibia, leading to secondary osteoarthritis.

Chalk Stick-Type Fractures.

It is replaced by connective tissue containing osteoprogenitor cells and blood vessels.

Conventional chondrosarcoma, which is hyaline cartilage producing.

Calcified matrix appears as foci of flocculent densities.

Osteopenia, Osteoporosis, Osteomalacia, Secondary hyperparathyroidism, Growth retardation.

They invade the cortex, periosteum, and soft tissue, often with hemorrhage and necrosis.

In early adulthood after cessation of skeletal growth.

Interference with the acidification process of the osteoclast resorption pit.

Lack of medullary canal, bulbous ends of bones, and Erlenmeyer flask deformity.

Most cases are asymptomatic.

Osteopenia refers to decreased bone mass, while osteoporosis is severe osteopenia that significantly increases fracture risk.

Vertebral fractures, particularly in the thoracic and lumbar regions.

60% to 70%.

Woven bone (rapidly produced, less structural integrity) and lamellar bone (slowly produced, better structural integrity).

Pluripotential mesenchymal cells on bone surfaces that differentiate into osteoblasts.

The most common lethal form of dwarfism, characterized by microlemic shortening of limbs and respiratory insufficiency.

They are cured by simple excision.

Benign tumors.

The development of flat bones directly from a fibrous layer of tissue without a cartilage mold.

A malignant bone tumor characterized by primitive round cells without obvious differentiation.

Sensorineural deficit.

Marble bone disease or Albers-Schönberg disease.

Neoplastic cells are primitive osteoblast precursors, and the tumor contains non-neoplastic osteoclasts.

PDGF, TGF-β, and FGF stimulate bone cells.

A fusiform, uncalcified tissue that provides an anchor between the ends of bones but lacks rigidity.

Organic component (osteoid, 35%) and mineral component (65%).

A multimodality approach including neoadjuvant chemotherapy followed by surgery.

Late adolescence and early adulthood.

They are unique to bones and play a role in bone formation, mineralization, and calcium homeostasis.

Osteitis Deformans.

Initial osteolytic stage, mixed osteoclastic-osteoblastic stage, and burned out quiescent osteosclerotic stage.

A mosaic pattern of lamellar bone.

Pott disease.

Waves of osteoclastic activity and numerous resorption pits.

Through an intricate network of dendritic cytoplasmic processes via tunnels known as canaliculi.

A disorder in children that interferes with bone deposition in growth plates.

Activates osteoclasts, increasing bone resorption and serum calcium levels.

Misshapen blue-yellow teeth.

Men, with a ratio of 1.6:1.

Rupture of blood vessels results in hematoma filling the fracture gap and surrounding the bone injury.

It provides a fibrin mesh that seals the fracture site and creates a framework for inflammatory cells, fibroblasts, and new capillaries.

A group of lysosomal storage diseases caused by deficiencies in enzymes that degrade certain sulfates.

Osteochondroma, with 85% being solitary.

It transforms into a bony callus.

Unexplained fever.

Alcohol abuse, Gaucher disease, bisphosphonates, infection, and corticosteroids.

Mutations in the homeobox HOXD13 gene.

A condition caused by loss of function mutations in the RUNX2 gene, leading to various skeletal abnormalities.

A benign cartilage-capped tumor attached to the underlying skeleton by a bony stalk.

A brittle bone disease caused by deficiencies in the synthesis of type I collagen, leading to extreme skeletal fragility.

Malignant tumors that produce cartilage.

Osteoid osteoma is less than 2 cm, while osteoblastoma is larger than 2 cm.

Growth Hormone, Thyroid Hormone, Indian Hedgehog, Parathyroid hormone-related protein, Wnt, SOX9, RUNX2, and Fibroblast growth factors.

The presence of Home-Wright Rosettes.

It is dominated by multinucleated osteoclast-type giant cells and is locally aggressive.

Sudden fracture of the bone.

Codman triangle, which results from the tumor breaking in the cortex and lifting the periosteum.

70%.

A small intraosseous abscess that involves the cortex and is walled off by reactive bone.

Axial skeleton or proximal femur (80%).

It involves a somatic gain-of-function mutation in the GNAS1 gene.

Dysostosis involves localized issues, while dysplasia involves global disorganization.

During childhood.

Dead bone.

Through hematogenous spread, extension from contiguous sites, or direct implantation.

They are bone-forming cells that synthesize, transport, assemble matrix, and regulate mineralization.

Bacteria proliferate, inducing neutrophilic inflammation and spreading via the Haversian system.

Severe nocturnal pain due to PGE2 produced by proliferating osteoblasts.

Generalized osteitis fibrosa cystica (von Recklinghausen disease of bone).

Bacterial infection, primarily Staphylococcus aureus.

Interplay of environmental factors and genetics.

They become inactive and may remain on the surface or become embedded as osteocytes.

The adult counterpart of Rickets, where bone formed during remodeling is unmineralized.

5-year survival of 80-90%, rarely metastasizes.

(11;22)(q24;q12) translocation, fusing EWS and FLI1.

Fractures where the overlying skin is intact.

In bones of endochondral origin, near the growth plate of long tubular bones.

Smaller than 3 cm, gray-blue translucent, composed of well-circumscribed nodules of hyaline cartilage.

Metaphysis or epiphysis due to metaphyseal vessels penetrating the growth plate.

Enlarged, thick, coarsened cortices and cancellous bone.

Impairment of mineralization and accumulation of unmineralized matrix.

Osteoporosis, Brown Tumors, Osteitis Fibrosa cystica.

Bone resorption predominates.

A fracture occurring in bone weakened by underlying disease or tumor.

Invagination of the skull base (platybasia).

Germline loss of function in EXT1 or EXT2 genes, affecting heparin sulfate synthesis.

Sessile or pedunculated, 1-20 cm, with a cap of benign hyaline cartilage.

Massive reactive periosteal bone deposition on the medial and anterior surface of the tibia.

They are responsible for bone resorption.

The process by which most bones develop from a cartilage mold.

Approximately 10%.

Younger than 20 years old.

The most common skeletal dysplasia and a major cause of dwarfism, caused by a gain-of-function mutation in FGFR3.

Bone lesions appear around the 5th month of gestation.

Too little bone resulting in extreme skeletal fragility.

Benign bone-producing tumors.

Usually in their 40s or older, with some variants affecting younger patients.

Osteosarcoma.