Infant is only fed with cow milk. Infant presents with pain and tenderness in the legs, which is often severe. Easy bruising is also speculated.
A. Scurvy (Vitamin C deficiency)
Maternal Iodine Deficiency
C. Cretinism
Patient presents with dwarfism, limbs disproportionately short in relation to the trunk. The fontanelles of the skull were closed late resulting in unusually large head. Delay in closure of epiphyses
A. Cretinism
In this pathology, maturation of the hypertrophied zone is retarded, and the zone of proliferation cartilage is narrow. Growth plates remain open but failure of endochondral ossification produces severe dwarfism.
B. Cretinism
Mucopolysaccharidosis type 4 leading to a severe form of dwarfism, dental defects, mental retardation, corneal opacities and increased urinary excretion of keratan sulfate
B. Morquio Syndrome
Patient presents with short stature and neck, hypermobile joints, skeletal deformities, widely spaced teeth, cardiomegaly, and mild hepatospenomegaly, severe scoliosis.
D. Morquio Syndrome
Inherited Dwarfism caused by arrest of growth plate
D. Achondroplasia
Patient presents with macrocephaly and short-limbed dwarfism. There is failure of normal epiphyseal cartilage formation. Patient also has severe kyphoscoliosis. There is a mutation in FGFR3. What is the diagnosis and chromosomal mutation?
B. Achondroplasia (Chromosome 4 p16.3)
A 30-year-old man with dwarfism is admitted to the hospital for hip replacement due to severe osteoarthritis. He has short arms and legs and a relatively large head. His parents do not show signs of the this congenital disease. This patient most likely has a spontaneous mutation in the gene encoding which of the following proteins?
B. Fibroblast growth factor receptor (achondroplasia)
Patient presents with easy bruising and poor nutritional diet. Upon examination there is lack of osteoblastic function and a deficiency of vitamin C. There is irregular vascular perforation of the cartilage plate leading to impaired wound healing and bone growth. What is the diagnosis?
B. Scurvy
Failed osteoclastic bone resorption leading to marble bone disease.
osteopetrosis
Characterized by: retention of primary spongiosum with its cartilage cores, lack of funnelization of the metaphysis, and thickened cortex
osteopetrosis
Patient presents with severe anemia, extramedullary hematopoiesis. She also presents with blindness and deafness. X-ray imaging shows abnormally radiodense bones weighing 2x -3x more than normal bone
Marble Bone disease (osteopetrosis)
6-year-old child with mild hydrocephalus suffers chronic infections and dies of intractable chronic anemia. At autopsy, his bones are dense and misshapen. The femur, in particular, shows obliteration of the marrow space. Histologically, the bones demonstrate disorganization of bony trabeculae by retention of primary spongiosa and further obliteration of the marrow spaces by secondary spongiosa (shown in the image). Hematopoietic bone marrow cells are sparse. The disorder is caused by mutation in genes that regulate which of the following cell types?
D. Osteoclasts (osteopetrosis)
24-year-old man on chronic corticosteroid therapy for severe asthma presents with a 6-month history of increasing hip pain. This patient most likely exhibits symptoms of which of the following metabolic bone disease?
D. Osteoporosis
marble bone disease
osteopetrosis
8 year old boy complains of bone pain, weak muscles, fatigue and a stiff waddling gait. Upon examination the shafts of the long bone and skull become thickened
osteopetrosis
symmetric thickening and increased diameter oft he diaphysis of long bones. Patient will present will present with chronic pain, fatigue, and gait abnormalities
progressive diaphyseal dysplasia
gene mutation of COL1A1 resulting in abnormal formation of type 1 collagen
Osteogenesis Imperfecta
Fractures at infancy, thin bones, blue sclera
Which type of Osteogenesis Imperfecta?
Type 1
Lethal short stature, severe defects, blue sclera
Which type of Osteogenesis Imperfecta?
Type 2
Most deforming type, many bone fractures, severe deformities, brittle teeth
Which type of Osteogenesis Imperfecta?
Type 3
Fractures at infancy, thin bones, defect in collagen quality
Which type of Osteogenesis Imperfecta?
Type 4
Inherited as an autosomal dominant trait, characterized by multiple fractures after birth, blue sclera and hearing abnormalities
Osteogenesis Imperfecta Type I
Infants are usually still stillborn or die within a few days after birth. Severe limb deformities. All bones sustain fractures during delivery or during uterine contractions. Sclerae are blue
Osteogenesis Imperfecta Type II
Most severly deforming type of diseases and is characterized by many bone fractures, growth retardation and severe skeletal deformities. Fractures are present at birth. Patients develop severe shortening of their stature because of progressive bone fractures and severe kyphoscolosis. Sclerae may be blue at birth, but become white shortly thereafter.
Osteogenesis Type 3
Abnormal cross-linkages of collagen result in thin, delicate and weak collagen fibrils. This does not allow the bone cortex to mature. affected infants are stillborn or die within a few days after birth.
Osteogenesis Imperfecta Type 4
2-year-old boy is treated for recurrent fractures of his long bones. Physical examination reveals blue sclerae, loose joints, abnormal teeth, and poor hearing. Molecular diagnostic studies will most likely demonstrate a mutation in the gene encoding which of the following proteins?
A. Collagen
Development of numerous cartilaginous masses that lead to bony deformities. Most types of cartilage (residual hyaline, anlage, from growth plate) does not undergo endochondral ossification and remains in the bones.
Enchondromatosis
Bones show multiple, tumor-like masses of abnormally arranged hyaline cartilage (enchondromas), with zones of proliferative and hypertrophied cartilage. These tumors tend to be located in the metaphysis and settle in the diaphysis
Enchondromatosis
mutation of PTHR1 gene
Enchondromatosis
A 35-year-old woman has multiple cartilaginous lesiosn in her long and short bones. A radiograph of the hand reveals bulbous swellings. A biopsy shows abnoramlly arranged hyaline cartilage, with scattered zones of proliferation. What is the diagnosis of this patient and what are they at risk for?
Enchondromatosis / Chondrosarcoma
Multiple enchondromas and cavernous or spindle cell hemangiomas of soft tissue. Usually manifests in early childhood and may lead to significant skeletal deformities
Maffucci Syndrome
Type of trauma characterized by a ligament being stretched beyond its capacity
Sprain
Type of trauma characterized by joint dislocation
Luxation
Where is a stress fracture most commonly found?
3rd metatarsal of foot
Child with a type 5 tracture will need to be notified of...
Growth arrest
Osteonecrosis at the head of the femoral in an adult
idiopathic osteonecrosis
Osteonecrosis at the head of the femoral in a child
Legg-Calvé-Perthes disease
Center of an early lesion of this condition is characterized by proliferating fibroblasts and
more peripheral osteoblastic cells beginning to form woven bone
Myositis Ossificans
A 17 YO boy fractures his left tibia in a skiing accident. One year later, an X-ray of his leg discloses reactive bone formation in the calf muscle at the site of injury. Which of the following is the most likely diagnosis?
C. Myositis Ossificans
Disease known as an inflammation, usually caused by a bacterial infection of bone and bone marrow
Osteomyelitis
Most common pathogen causing osteomyelitis
Staphylococcus Aureus
What condition is characterized by bacterial organisms introduced directly into bone by pen-
etrating wounds, open fractures or surgery
Osteomyelitis
Most common sites affected by hematogenous osteomyelitis
Metaphyses of long bones such as in knee, ankle and hip
Most common predisposing factor of osteomyelitis
Drug Abuser
A complication of childhood tuberculosis. Most commonly affecting the 11th thoracid vertebrae. The vertebral body is almost completely replaced by tuberculous tissue
Pott Disease
Chronic, inflammatory disease of bone, characterized by granulomas, necrosis and marked reactive bone formation.
Syphilis of Bone
What area is most affected in congenital syphilis?
the knee
What stage of syphilis affects the adults in acquired syphilis?
early in tertiary stage
What are the areas most affected in acquired syphilis?
tibia, nose, palate and skull
A 50-year-old man presents with a 2-day history of left leg pain. His temperature is 38.7°C (103°F). He has a harsh systolic murmur and echocardiographic evidence of bacterial endocarditis. If this patient has developed hematogenous osteomyelitis, his bone infection would most likely be found in which of the following anatomic locations?
(A) Body of a flat bone
(B) Diaphysis of a long bone
(C) Epiphysis of a long bone
(D) Metaphysis of a long bone
(E) Periosteum of a long bone
D. Metaphysis of a long bone
The 3 types of Langerhans Cell Histiocytosis
1. Eosinophilic Granuloma, a localized form
2. Hand-Schüller-Christian disease, a disseminated variant
3. Letterer-Siwe disease, a fulminant and often fatal generalized disease
A 2-year-old boy presents with a rash. On physical examination, he has a crusty, red skin lesion at the hairline and on the extensor surfaces of his extremities and abdomen. Exophthalmos is noted. An X-ray film of the head shows multiple, radiolucent lesions in the skull. A biopsy of one of the skull lesions shows large, plump cells with pale, eosinophilic, foamy cytoplasm and convoluted nuclei (shown in the image). What is the most likely diagnosis?
(A) Ewing sarcoma
(B) Giant cell tumor of bone
(C) Hand-Schüller-Christian disease
(D) Large B-cell lymphoma
(E) Multiple myeloma
C. Hand-Schuller-Christian disease
In this type of Langerhans Cell Histiocytosis, it is usually seen in the first two decades of life and is self-limited causing one or two lytic lesions on the axial skeleton, and vertebrae.
Eosinophilic Granuloma
This type of langerhans cell histiocytosis is characterized by a triad:
1: Radiolucent lesions of the skull
2: Diabetes inspidus
3: Exophthalmos (occurs in only 1/3 of patients)
Hand-Schuller-Christian disease
Diabetes mellitus is caused by hand-schuller-christian disease and the infiltration of langerhans cells into the
hypothalamic stalk
In this condition, involvement of the jaw bone results in loss of teeth, evident radiologically as
“floating teeth”
Hand-Schuller-Christian Disease
What type of Langerhans Cell Histiocytosis results in multiple organ involvement which culminates in massive hepatosplenomegaly, lymphadenopathy, anemia, leukopenia, and thrombocytopenia??
Letterer-Siwe Disease
Osteoporosis is characterized by increased activity of which cell?
C. Osteoclast
Metabolic bone disease characterized by diffuse skeletal lesions in which normally mineralized bone is decreased in mass to the point that it no longer provides adequate mechanical support.
Osteoporosis
Women in early postmenopausal have decreas estrogen in their bodies. The estrogen withdrawal directly increased risk for
Osteoporosis type 1
After age 70, patients reflect decreased osteoblast function making them candidates for..
Osteoporosis type 2
Disorder of characterized by inadequate mineralization of newly formed bone
matrix.
Adult form/ Childform
Osteomalacia / Rickets
Children with insufficient sun exposure and vitamin D intake leads to?
Rickets
Intestinal malabsorption of vitamin D in adult can lead to
Osteomalacia
In a child the epiphyseal growth plate are undermineralized and can lead to affection of enchondral bone formation. Skull, chest wall deformities and vargus are all characteristic of
Rickets
Impaired mineralization of the osteoid matrix, resulting in thin, fragile bone. Patient will present with low serum calcium and phosphorus and high alkaline phosphatase
Osteomalacia
Generalized bone resorption due to inappropriate secretion of PTH
Primary Hyperparathyroidism
Usually from a parathyroid adenoma, the patient will present with increased serum calcium and decreased serum phosphorus.
Primary Hyperparathyroidism
Metabolic bone disease characterized by bone mineralization deficiency because of chronic renal disease
Renal Osteodystrophy
A grape-like mass protruding from the penis of a 6-month-old boy would most likely be which of the following?
D. Rhabdomyosarcoma
Biopsy of a 6-cm retroperitoneal mass demonstrates fibrous tissue with abundant spindle cells that initially look malignant, but the pathologist concludes the mass is benign. This lesion is most likely which of the following?
C. Fibromatosis
Which of the following would be the most likely site for a malignant fibrous histiocytoma to arise?
E. Retroperitoneum
Which of the following is the most common sarcoma of the gastrointestinal tract?
A. Leiomyosarcoma
Which of the following characteristically has both glands and spindle cells?
I. Synovial Sarcoma
What marker is used to diagnose Ewing Sarcoma?
CD99 (positive)
bonus: CD 45 (negative)
Chronic condition characterized by lesions of bone resulting from disordered remodeling, which excessive bone resorption initially results in lytic lesions, followed by disorganized and excessive bone formation
Paget Disease of Bone
Localized increased in osteoclast formation that lead to bone resorption and associated osteoblastic activity
Paget Disease of Bone
Even though serum calcium and phosphorus levels are normal and alkaline phosphatase level is high, bone turnover increased more than 20-fold resulting in deformed remodeling of bone.
Paget's Dsiease
Developmental abnormality characterized by a disorganized mixture of fibrous and osseous elements in the medullary region of affected bones
Fibrous Dysplasia
Virus infects osteoclastic progenitors or osteoclast and stimulates osteoclast activity leading to excessive resorption of bone
Paget's Disease
Bone develops in mosaic pattern produced by units of lamellar bone. Marrow becomes fibrotic and there is a mixture of osteoclast and osteoblast on the surface of the bone
Paget Disease
caused by hereditary deficiency of the enzyme glucocerebrosidase. Causes glucosylceramide to collect in bone marrow causing pancytopenia , severe joint and bone pain frequently in hips and knees
Gaucher Disease
Cafe-au-lait spots are seen along with a mixture of fibrous and osseous elements in bone marrow is called.
Fibrous Dysplasia (McCune-Albright Syndrome)
Chondroblastoma
A
Giant Cell Tumor
A + B
Osteoblastoma
B
Osteochondroma
B
Non-ossifying fibroma
B
Osteoid Oseoma
B
Chondromyxoid Fibroma
B
Endochodroma
C
Fibrous Dysplasia
C
Ewing Sarcoma
D
Chondrosarcoma
D
Osteosarcoma
E
Juxtacortica Osteosarcoma
F
Non-neoplastic lesion, large, well-demarcated, lytic epiphyseal and diaphyseal lesion
Cortex is also thinned
Solitary Bone Cyst
Blood-filled spaces are separated by cellular fibrous septa with scattered osteoclast-like giant cells and reactive bone
Aneurysmal Bone Cyst
This benign bone tumor contains a central nidus embedded in dense bone. The histology contains irregular trabeculae of weoven bone surrounded by osteoblast, osteoclast, and fibrovascular marrow
Osteoid Osteoma
Lobules of hypocellular hyaline cartiage without atypia
Enchondroma
Lytic lesion of the head of the humerus that involves the epiphysis. Histology shows chondroblast surrounded by a mineralized primitive chondroid matrix
Chondroblastoma
Osteoblastic malignant tumor that extends through the cortex of the epiphysis into the soft tissue
Osteosarcoma
Destructive mass replacing the mass containing aggregates of ring-shaped and popcorn-like calcifications. Hyaline cartilage shows calcification, ossification, and focal liquefaction
Chondrosarcoma
Osteoclast-type giant cells and plump, oval mononuclear cells inside epiphysis and diaphysis
Giant Cell Tumor
Expansile cortical destruction with poor cirumscription and a delicate interruped periosteal reaction. Immunohistochemical stain positive for CD99
Ewing Sarcoma
One solitary tumor usually in a segment of the skull which reveals punched out lytic lesions. Associated with AL amyloid light chain.
Multiple Myeloma
Osteochondroma
Osteopetrosis
Osteomalacia
Osteosarcoma
What gene mutation is osteosarcoma associated with?
