Bones, Joints, And Soft Tissue

Front 1

- Point mutation in FGFR3 on 4p16.3
- Short extremities due to premature deposition of bony struts at growth plate
- Overgrowth of disorganized chondrocytes not in columns
- Large head w/ prominent forehead & depressed nasal root
- Normal intelligence
- Normal reproductivity
- Sporadic mutations
- Autosomal dominant

Back 1

14. Achondroplasia

Front 2

- Fatal in infancy or stillborn
- Short flipperlike limbs
- Small chest & bell-shaped abdomen
- Death due to respiratory insufficiency
- FGFR3 receptor missense or point mutation

Back 2

15. Thanatophoric Dwarfism

Front 3

- Type II lethal in infancy
- Deforming type III
- Majority autosomal dominant generalized osteopenia w/ multiple bone fractures
- Short stature
- Abnormalities in synthesis of type 1 collagen
- Blue sclera
- Gray opalescent teeth w/ fractures due to dentinogenesis imperfecta

Back 3

12. Osteogenesis Imperfecta

Front 4

- FGFR2 mutation
- Autosomal dominant inheritance
- Early closure of cranial sutures
- Brachycephaly
- Spacious forehead
- Hypertelorism
- Proptosis
- Strabismus (“walleye”)
- Nystagmus
- Beak-like nose
- Maxillary hypoplasia

Back 4

2. Crouzon Syndrome

Front 5

- Selective depigmentation of hair/eyebrows w/ white streaks
- Hypertelorism
- Pear-shaped nose
- Normal intelligence
- Hearing loss

Back 5

1. Waardenburg Syndrome

Front 6

- Infantile fatal
- Autosomal recessive childhood form
- Autosomal dominant adult form
- Bone fractures
- Cranial nerve palsies
- Hearing loss
- Vision problems
- No marrow signal by MRI in infancy
- Carbonic anhydrase II deficiency
- Loss of osteoclastic activity
- Primitive bone & primary spongiosa
- Loss of medullary bone so pancytopenia w/ bleeding & infections
- Increased bone density on x-ray w/ striped appearance
- Loss of corticomedullary demarcation

Back 6

13. Osteopetrosis

Front 7

- Primary senile postmenopausal due to decreased estrogen & increased osteoclastic activity
- Secondary causes include endocrine
- E.g. Cushing’s disease or syndrome
- Drugs
- Thinning/loss of horizontal trabeculae w/ normal mineralization
- Compression fractures in cervical and thoracic/lumbar spine

Back 7

18. Osteoporosis

Front 8

- Caucasian, Northern European, US
- M>F, older males 50 plus
- Thickened skull bones so tight hat
-slow infection by a paramyxovirus
- Bowing of long bones
- Classic osteosclerotic phase w/ prominent cement lines resembling jigsaw puzzle piece or mosaic
- Coarse trabeculae on x-ray w/ widened cortex flame or blade of grass sign
- Fatal secondary osteosarcoma
- Increased serum alkaline phosphatase and urinary hydroxyproline; normal serum calcium & phosphorus
-hypervascularity warms overlying skin, increased blood flow behaves as A/V shunt leading to high out put CHF

Back 8

26. Paget’s Disease of Bone

Front 9

- Vitamin D deficiency in children
- Causes include malnutrition, liver disease, renal insufficiency, lack of sunlight exposure
- Bowing of legs
- Knobbiness rachitic rosary at Costochondral junctions
- Flattened occiput if infant
- Disorderly arrangement of chondrocytes w/ lack of columns
- Excess unmineralized osteoid
- Generalized osteopenia

Back 9

16. Rickets

Front 10

- Vitamin D deficiency in adults
- Excess unmineralized osteoid w/ widened osteoid seams
- Generalized osteopenia
- Fractures, deformities w/ kyphoscoliosis

Back 10

17. Osteomalacia

Front 11

- Associated w/ increased serum calcium
- Pituitary adenoma
- Dissecting osteitis w/ tunneling
- Increased osteoclastic activity w/ bone resorption
- Fibroblastic replacement
-brown tumor

Back 11

22. Hyperparathyroidism aka von Recklinghausen disease of bone

Front 12

- Dissecting osteitis w/ increased osteoclastic activity
- Often mixed w/ osteomalacia & osteosclerosis
-hyperphosphatemia --> hypocalcemia--> hyperparathyroidism
-decrease conversion of 1,25-OH-D3 to activated Vit D

Back 12

23. Renal Osteodystrophy

Front 13

- Dead bone w/ empty lacunae plus
- Fat necrosis in medullary cavity; releasing fatty acids which bind calcium and form insoluble calcium soaps
- No neutrophils
- Causes include corticosteroids
- Pancreatitis
- Hemoglobinopathies including sickle cell anemia, polycythemia vera
- Dysbarism (bends)
- Often involves hip(s)
- Found in 20% of cases of Gaucher’s disease

Back 13

20. Avascular Necrosis

Front 14

- Necrotic bone w/ empty lacunae & neutrophils
- MOST COMMON cause is Staph aureus so see Gram positive cocci in clusters
- Other causes if IVDU or urinary tract infection include Klebsiella species, E. coli, or Pseudomonas aeruginosa
- Salmonella species in sickle cell anemia pts
- Hemophilus influenzae or Streptococcus agalactiae (Group B strep) in pediatric cases
- Lytic lesion w/ periosteal reaction in x-ray
- Hematogenous or direct spread

Back 14

1. Acute Pyogenic Osteomyelitis

Front 15

- Chronic inflammation w/ plasma cells
- Fibroblastic proliferation
- Necrotic bone w/ empty lacunae called sequestrum,
- Overlying woven bone on necrotic bone is called involucrum

Back 15

56. Chronic Osteomyelitis

Front 16

- If involve spine, called Pott’s disease
- Granulomas w/ central caseation & periph. Langhans giant cells & T lymphocytes

Back 16

57. Tuberculous Osteomyelitis

Front 17

- Avascular necrosis of femoral head (hips) in pediatric age
- Limp, Abnormal gate
- Pain referred to thigh
- Must maintain range of motion

Back 17

21. Legg-Calve-Perthes

Front 18

- Benign tumor; involves bones of skull or maxilla
- Thickened bony trabeculae w/ woven & lamellar bone, often bones of skull
- If multiple think of Gardner syndrome (FAP)

Back 18

39. Osteoma

Front 19

- Mutation 5q21
- Jaw osteomas
- Intraabdominal desmoid (fibromatosis)
- Familial adenomatosis polyposis with hundreds of colonic tubular adenomas and 100% risk of colonic carcinoma recommend resect colon by age 39 years

Back 19

5. Gardner Syndrome

Front 20

-Benign tumor; < 2cm, young, 1st 2 decades
-Found in diaphysis
- Nocturnal pain relieved w/ aspirin
- Long bones
- Classic x-ray w/ mineralized nidus
- Lytic zone & peripheral osteosclerosis
- Central woven bone
- Next loose connective tissues w/ vascular proliferation
- Peripheral osteosclerosis
- Zonation

Back 20

27. Osteoid Osteoma

Front 21

- Benign tumor, identical x-ray & histology as osteoid osteoma, but larger > 2 cm
- Involves spine/vertebral bodies
- No relief w/ aspirin
-found in vertebral column
-pain is dull and achy

Back 21

28. Osteoblastoma

Front 22

- Most common primary matrix producing malignancy of bone
- Malignant ostoblasts
- More common in males
- 2 peaks w/ largest in 2nd-3rd decade and seconda peak in elderly as secondary osteosarcoma
- early hematogenous spread to lungs
- 20% w/ primary osteosarcoma have lung mets at presentation
- Painless or painful mass most often around knee (distal femur, proximal tibia)
-Codman's triangle; sunburst pattern
-"lacy" osteoid

Back 22

40. Osteosarcoma

Front 23

- Found in elderly
- Associated w/ radiation therapy
o Paget’s disease of bone
o Infarct

Back 23

41. Secondary Osteosarcoma

Front 24

-Benign tumor found in metaphysis
- Dev. defect so stop growing at puberty
- Lateral displacement of growth plate
- Cartilaginous cap, often pedunculated

Back 24

38. Osteochondroma

Front 25

-Benign tumor of hyaline cartilage
- Identical histology & x-ray changes as enchondroma but location on surface

Back 25

30. Chondroma

Front 26

- Benign intramedullary tumor of hyaline cartilage
- Lobules of cartilage w/ one nucleus in a lacunar space
- X-ray showing rings & arcs
- Stippled or flocculent densities
-located in metaphysis of hands and feet
- If multiple think Ollier’s disease
-If multiple with multiple hemangiomas think Maffucci syndrome

Back 26

29. Enchondroma

Front 27

- Multiple enchondromas involving hands & feet
- Multiple hemangiomas (spindle cell hemangiomas) of extremities
- Extremities w/ calcified thrombi on x-ray
- Increased risk of chondrsarcoma (15%) after age 40

Back 27

6. Maffucci Syndrome

Front 28

- Multiple enchondromas of hands & feet
- Increased risk (30-50%) of chondrosarcomas after age 40

Back 28

7. Ollier’s Disease

Front 29

- Teens-20s, epiphyseal location
- End of long bone at epiphysis; very painful and restrict joint movement
- Distal femur
- Proximal humerus
- Sheets of polyhedral cells w/ eosinophilic cytoplasm
- Mineralized matrix w/ a “chicken wire” appearance
- Eccentric lytic lesion w/ sclerotic rim

Back 29

32. Chondroblastoma

Front 30

- Middle to old age
- Axial skeleton
- Pelvic or shoulder girdle
- Multiple pleomorphic nuclei in a single lacuna
- Mitoses
- Pleomorphism
- Conventional
- Low grade w/ favorable prognosis
- High grade III 70% mets usually to lung

Back 30

33. Chondrosarcoma

Front 31

- (called fibrous cortical defect if small lesion 0.5 cm in toddler)
- 5-6 cm in diameter
- Distal femur, proximal tibia
- Eccentric lytic intracortical w/ scalloped edges
- Metaphysis
- Fibroblastic proliferation w/ a storiform (“pinwheel”) pattern & clusters of foamy/xanthomatous histiocytes

Back 31

47. Nonossifying Fibroma

Front 32

- Mono-ostotic or polyostotic
- Pediatric lesion
- Widened cortex w/ ground-glass appearance
- Irregular bony trabeculae w/ Chinese letter appearance w/o osteoblastic rimming & fibrous stroma
- Facial bones, ribs
- Femur/hip w/ shepherd’s crook deformity
- Polyostotic form w/ café-au-lait spots see w/ McCune Albright syndrome (3%)

Back 32

46. Fibrous Dysplasia

Front 33

- Polyostotic fibrous dysplasia with bony trabeculae having a Chinese letter arrangement w/o osteoblastic rimming & fibrous stroma
- Often hip/femur involvement w/ shepherd’s crook deformity
- Widened cortex w/ ground-glass appearance
- Isosexual precocious puberty in females w/ early menarche
- Café-au-lait macules w/ irregular coast of Maine periphery
- Slightly increased risk of osteosarcoma

Back 33

8. McCune-Albright Syndrome

Front 34

- T(11;22)
- Small, blue round cell tumor
- 1st – 2nd decades
- Permeative moth-eaten diaphyseal lesion w/ cortical destruction & soft tissue extension
- Abnormal lamellated periosteal reaction
- Many mitoses
- Necrosis
- PAS+ cytoplasm due to glycogen
- CD99+
- Vimentin+
- Aggressive tumor
- Requires chemotherapy, radiation

Back 34

50. Ewing Sarcoma

Front 35

- More common in females
- Unusual among bone tumors
- Eccentric lytic epiphyseal lesion w/ sclerotic rim
- Proliferating mononuclear type cell growing in syncytium & osteoclastic type giant cells
- Benign
- Recurs if incompletely excised

Back 35

49. Giant Cell Tumor of Bone

Front 36

- Also known as degenerative joint disease
- Increasing incidence at >50+ years
- Principally due to mech. wear & tear injury
- Increased TNFalpha & IL-1
- Fibrillation of articular cartilage w/ formation of joint mouse/mice (loose bodies) in synovial fluid
- Complete loss of articular cartilage called eburnation
- Subchondral cysts
- Subchondral osteosclerosis
- Involvement of major weight-bearing joints including hips, knees, spine
- Osteophyte formation
- Asymmetric, osteophytes at DIP joints in hands called Heberden’s nodes
- Stiffness in morning w/o decrease in symptoms w/ activity

Back 36

58. Osteoarthritis

Front 37

- Autoimmune condition
- HLADR4+
- Activated T lymphocytes, cytokines
- FEMALE predominance
- Relapsing/remitting
- Present in 20s-30s
- Systemic condition so can have fever
- Proliferative synovitis w/ classic finding of lymphoid nodules & also plasma cells
- Proliferating synovium forms pannus which grows over & destroys articular cartilage and extends to involve supporting tendinoligamentous structures w/ joint instability
- Mainly involves small joints of hands/feet
- Symmetric
- Stiffness in morning abates w/ activity
- Positive rheumatoid factor of IgM type
- PIP & MCP principally involved
- Ulnar deviation
- Swan neck deformity
- Subluxation at MCP joints
- Rheumatoid nodule w/ central fibrinoid necrosis & periph. palisading of histiocytes & lymphocytes over flexer surfaces
- Elbows or visceral organs

Back 37

59. Rheumatoid Arthritis

Front 38

- Starts in adolescence & progresses
- Males w/ spinal immobility (“bamboo spine”)
- Involvement of sacroiliac joints
- HLAB27+
- Inflammation of tendinoligamentous insertion w/ bony outgrowths
-Assoc with Klebsiella infection

Back 38

61. Ankylosing Spondyloarthritis

Front 39

- Seen in 5% of pts w/ psoriasis
- 35-45 yrs of age
- Silvery scales in flexural areas
- Most often asymmetric oligoarticular
- DIP of hands/feet > ankles > knees & hips
- Sausage-shaped fingers (dactylitis) w/ pitting of nails
- Onycholysis of nails
-pencil in cup
-- HLAB27+

Back 39

60. Psoriatic Arthritis

Front 40

- Classic triad of arthritis; can't see, pee, or sit in a tree
- Nongonococcal urethritis (usually due to Chlamydia trachomatis) & conjunctivitis
- HLAB27+
- Males in 20s-30s
- Some have hx of GI infections
- Arthritis may have similar distribution w/ involvement of sacroiliac joints as seen in ankylosing spondylitis

Back 40

62. Reiter's Syndrome

Front 41

- Joint most often involved is knee
- Causative agents include Staph aureus, Hemophilus influenzae, N. gonorrhoeae
- Gram negative bacilli (E. coli, Salmonella sp., Pseudomonas sp.)
- < 2 yr Hemophilus influenzae
- Older children & adults Staph aureus
- 15-25 year Neisseria gonorrhoeae w/ neutrophils as well as intracellular and extracellular Gram negative cocci in pairs (diplococci)

Back 41

66. Suppurative Arthritis

Front 42

- Caused by Borrelia burgdorferi
- Hard tick vector lxodes dammini or lxodes scapularis
- Erythema chronicum migrans papule surrounded by erythematous ring
- Follows few weeks to 2 years after untreated disease
- Asymmetric
- Can be destructive like rheumatoid arthritis
- Involves knees, shoulders, elbows, ankles

Back 42

67. Lyme Arthritis

Front 43

- Caused by deposits of sodium urate crystals which are thin, needle-shaped showing strong negative birefringence (blue perpendicular to axis of compensation & yellow parallel)
- Large aggregates of sodium urate called tophi seen w/ recurrent disease usually after history of 12+ yrs
- Treat w/ allopurinol
- Abort attack w/ colchicines & NSAIDs
- Exacerbate symptoms w/ alcohol & obesity
- Classic pain in first MTP joint of great toe > insteps > ankles > heels
- Later hands
- Asymmetric
- Can have renal stones or renal failure
- Classic crystals identified in synovial fluid

Back 43

64. Gout

Front 44

- Also know as chondrocalcinosis
- Deposits of calcium pyrophosphate crystals which are short w/ blunt ends showing weak positive birefringence (blue parallel to axis of compensation & yellow perpendicular)
-geometric rhomboid shaped crystals
- Increasing symptoms, 2ndary to hyperPTH, diabetes m., or prev joint damage
-AD mutation in ANKH gene, which encodes a transmembrane inorganic pyrophosphate transport channel

Back 44

65. Pseudogout

Front 45

- Clonal proliferation
- Knee and ankle most often involved
- Bony erosion/destruction
- Proliferating mononuclear cells
- Hemosiderin deposits
- Fibrosis & osteoclast-like giant cells

Back 45

68. Pigmented Villonodular Synovitis

Front 46

- Most common benign tumor
- Benign tumor of mature fat
- Middle age & older
- Rearrangements of 12q14-15, 6p, 13q

Back 46

83. Lipoma

Front 47

- Classic mass on posterior neck/scapular region/upper back of male 60 yrs or older
- CD 34+ spindle cells w/ bipolar cytoplasmic processes
- Myxoid change
- Ropey collagen
- Admixed w/ mature fat
- Floret-like giant cells
- Deletion of 16q or less often deletion of 13q

Back 47

84. Spindle Cell Lipoma

Front 48

- Teens-20s
- Forearm, Painful
- Mature fat & proliferation of capillaries containing fibrin thrombi

Back 48

85. Angiolipoma

Front 49

- S100 protein+, diagnostic cell is lipoblast which is pleomorphic cells w/ varying sized fat vacuoles which indent central enlarged hyperchromatic nucleus or,
- Signet-ring like lipoblast w/ single cytoplasmic fat vacuole pushing an enlarged hyperchromatic nucleus to side
- Well differentiated lipoma-like liposarcoma
- Also called Atypical lipoma
- GOOD prognosis
- 10% have dedifferentiated component w/ worse prognosis
- Marker ring & giant chromosomes derived from 12q13-15

Back 49

86. Liposarcoma

Front 50

- t(12;16)
- Typical lipoblasts mainly of which resemble signet ring cells
- Myxoid/mucoid background
- Delicate plexiform vascular network
- Middle age
- Deep soft tissue mass involving extremities or retroperitoneum
- Also popliteal mass

Back 50

87. Myxoid Liposarcoma

Front 51

- Also t(12;16)
- Less favorable prognosis than myxoid LPS
- Much more cellular, Resembles lymphoma
- Look for diagnostic lipoblasts,
- Middle age, Deep soft tissue mass involving extremities or retroperitoneum

Back 51

88. Round Cell Liposarcoma

Front 52

- 2nd-3rd decade
- Athlete
- 50% associated w/ trauma
- Bone forming in muscle tissue, Proximal extremity
- Rapidly growing mass w/ ossification occurring over 3 weeks
- Central lesion resembles nodular fascitis w/ myxoid “tissue culture” appearance
- Surrounding granulation tissue & woven bone
- Peripheral lamellar bone formation
- ZONATION
- Benign

Back 52

82. Myositis Ossificans

Front 53

- Benign proliferation of fibroblasts w/ long sweeping fascicles of bland spindle cells
- Focal keloidal type collagen
- Widely infiltrative difficult to completely excise
- Involves abdominal wall after pregnancy
- Classic intraabdominal fibromatosis called desmoid found in Gardner syndrome
-Desmoids are deep-seated

Back 53

89. Fibromatosis

Front 54

- Malignancy of skeletal muscle
- Classic nuclear stain w/ myogenin & MYOD1

Back 54

94. Rhabdomyosarcoma

Front 55

- Uterus most common location
- Benign tumor of smooth muscle
- Can occur in esophagus or skin
- Interlacing fascicles of spindle cells w/ eosinophilic myofilaments
- Intersecting at 90 degree angle
- Perinuclear vacuoles
- Desmin+
- Actin+
- H-caldesmon+

Back 55

99. Leiomyoma

Front 56

- Malignant tumor of smooth muscle
- > 3 mitoses per 10 HPF suspicious for malignancy outside uterus
- Pleomorphic nuclei
- Hemorrhage and necrosis seen grossly
- Also larger size
- Deep soft tissues of extremities or retroperitoneum
- Middle age or older

Back 56

100. Leiomyosarcoma

Front 57

- Classic t(X;18)
- 15-35 years
- Popliteal mass w/ calcification
- Most often biphasic tumor w/ BCL2+ CD99+ short spindle cells having overlapping nuclei & clusters of EMA+ cytokeratin+ epitheloid cells which may form gland-like spaces
- Relatively poor prognosis w/ late fatal lung metastases
- Poorly differentiated variant resembling small blue round cell tumors does worse
- Neurofibroma & schwannoma already discussed w/ NF1 & NF2, can be solitary independent lesions, both S100 protein+

Back 57

108. Synovial Sarcoma

Front 58

- Malignancy of endothelial cells; HHV8+
- Endemic form in elderly males w/ velvety purple plaques on feet & lower extremities
- Widespread plaques then tumorous nodules in HIV+/AIDS
- CD31+ spindle cells w/ extravasated RBCs
- PAS+ hyaline globules & hemosiderin deposits
- Promontory sign in early patch stage

Back 58

113. Kaposi sarcoma

Front 59

- Cardiac lesion often involving left ventricle
- Remember in conjxn w/ tuberous sclerosis
- Benign tumor of skeletal muscle
- Classic “spider” cells w/ central nucleus & tendrils of cytoplasm extending from nucleus & clear PAS+ cyto due to glycogen

Back 59

93. Rhabdomyoma

Front 60

- 1st – 2nd decade
- Deep soft tissue of extremities
- WORST prognosis
- Nested appearance
- Clusters of small to medium sized cells, some w/ eosinophilic cytoplasm
- Central necrosis causing dropout leading to an alveolar appearance
- Fibrous stroma around nests w/ giant cells having a wreathlike arrangement of nuclei
- Nuclear MYOD1+
- Nuclear myogenin+

Back 60

98. Alveolar Rhabdomyosarcoma

Front 61

- [Aka Dermatofibroma]
- Middle age, mobile tan skin nodule
- Tumor of dermis
- Overlying epidermal hyperplasia
- No Grenz zone
- Heterogenous population of proliferating factor XIIIa+ fibroblasts in a storiform pattern demonstrating collagen trapping
- Hemosiderin deposits
- Clusters of foamy histiocytes
- Pushing border w/ subcutaneous tissue
- Benign

Back 61

90. Benign Fibrous Histiocytoma

Front 62

- S100 protein+, diagnostic cell is lipoblast which is pleomorphic cells w/ varying sized fat vacuoles which indent central enlarged hyperchromatic nucleus or,
- Signet-ring like lipoblast w/ single cytoplasmic fat vacuole pushing an enlarged hyperchromatic nucleus to side
- Well differentiated lipoma-like liposarcoma
- Also called Atypical lipoma
- GOOD prognosis
- 10% have dedifferentiated component w/ worse prognosis
- Marker ring & giant chromosomes derived from 12q13-15

Back 62

86. Liposarcoma

Front 63

- Mutation of 22q12 involving merlin
- Acoustic “neuromas” actually schwannomas
- Cellular Antoni A w/ Verocay bodies
- Myxoid hypocellular Antoni B
- Hyalinized vessel walls
- Cafe-au-lait macules
- No Lisch nodules

Back 63

79. NF 2

Front 64

- Mutation of 17q11.2 involve neurofibromin
- Multiple neurofibromas usually plexiform w/ gross appearance of “bag of worms”
- Mixture of neuritis, collagen, S100 protein+ Schwann cells
- Numerous café-au-lait macules (large, >6)
- Lisch nodules of irides
- Autosomal dominant inheritance
- 5% risk of developing malignant peripheral nerve sheath tumor in deep plexiform neurofibromas

Back 64

1. NF 1

Front 65

- Hemihypertrophy
- Wilms tumor
- Increased risk of soft tissue sarcoma including rhabdomyosarcoma
- Mutation of 11p15

Back 65

77. Beckwith Wiedemann

Front 66

- Children & young adults
- Volar forearm
- Reaction to repetitive trauma (chest wall of weight lifter)
- Rapid growth
- Central myxoid change w/ “tissue culture” like appearance
- Proliferating mitotically active fibroblasts
- Well circumscribed
- Benign

Back 66

80. Nodular Fascitis

Front 67

- Aka hereditary hemorrhagic telangiectasia
- Autosomal dominant inheritance
- Arterial blood shunting into postcap venules
- Telangiectasias of oral cavity, lips, GI, GU
- Risk of bleeding into gut, urine, nose

Back 67

75. Osler-Weber-Rendu

Front 68

- Chronic lymphedema due to axillary dissection w/ breast carcinoma & radical mastectomy
- Violaceous tumor mass due to angiosarcoma w/ anastomosing vascular channels lined w/ CD31+ pleomorphic endo cells w/ hobnail appearance plus solid growth pattern of pleomorphic CD31+ cells

Back 68

76. Stewart-Treves

Front 69

- Port wine stain w/ ipsilateral venous angiomatosis of leptomeninges
- Seizures
- Mental retardation

Back 69

71. Sturge-Weber

Front 70

- Hemangiomas
- Dysplastic arteriopathy
- Pain & hypertrophy of involved extremity
- Risk of infection

Back 70

72. Klippel-Trenaunay

Front 71

- 2p16
- Cutaneous, mucocutaneous, & atrial myxomas
- Melanotic schwannoma
- Large cell calcifying Sertoli cell tumor of testis
- Mucosal lentigenes
- Endocrine overactivity

Back 71

73. Carney Complex

Front 72

- MOST COMMON malignancy in bone
- Remember eponym: Bacon Lettuce Tomato w/ Kosher Pickle
- Mets from: B = breast L = lung
- T = thyroid K = kidney P = prostate
- Lytic bone lesions in patient > 40 yrs is a METASTASIS, all lytic except prostate which is osteoblastic w/ woven new bone formation so x-ray of prostate mets shows increased bone density

Back 72

54. Metastases to bone

Front 73

- Hypercalcemia w/ constipation & lethargy
- Low back pain, [anemia]
- 50-80 years
- Multiple lytic bone lesions or generalized osteopenia
- “spike” in gamma globulin region of SPEP
- Bence Jones protein in urine w/ “spike” and free monoclonal light chains
- IgG>IgA
- Light chain types
- In marrow sheets of plasma cells w/ eccentric nuclei, nucleoli, & multinucleation
- Most Common primary malignancy in bone

Back 73

52. Plasma Cell Myeloma

Front 74

- Monoclonal gammopathy of IgM type
- More often presents w/ enlarged lymph nodes due to lymphoplasmacytic lymphoma
- Plasma cells w/ Dutcher bodies (intranuclear eosinophilic inclusions due to monoclonal protein)
- Small mature lymphocytes
- Plasmacytoid lymphocytes in bone marrow
- Headaches
- Blurred vision due to hyperviscosity syndrome
- Rouleaux formation with RBCs in periph. blood smear resembling stacks of coins
- Rouleaux can occur w/ any type of monoclonal gammopathy including plasma cell myeloma

Back 74

53. Waldenstrom’s Macroglobulinemia

Front 75

- High grade
- Distal femur or proximal tibia
- Grossly resemble “bag of blood”
- Malignant osteoblasts in stroma
- Dilated vascular spaces

Back 75

45. Telangiectatic Ostesarcoma

Front 76

- Primary or secondary w/ bone pain involving metaphysic of radius, ulna, fibula, femur, humerus in decreasing order of freq.
- Clubbing of digits
- Periosteal new bone
- Secondary causes include bronchogenic lung carcinoma
- Cystic fibrosis
- Pulmonary metastases

Back 76

19. Hypertrophic Osteoarthropathy

Front 77

- Mucopolysaccharidosis (MPS) I
- Alder Reilly Anomaly granules in neutrophils in peripheral blood smear
- Cloudy corneas
- Coarse facial features (gargoylism)
- Depressed nasal bridge
- Mental retardation
- Abnormal heart valves
- Knock-knees
- Stiff joints
- Autosomal recessive inheritance
- Alpha L-iduronidase deficiency
- Death in first decade due to respiratory insufficiency

Back 77

3. Hurler Syndrome

Front 78

- MPS II
- Similar to Hurler except no cloudy corneas
- X-linked recessive inheritance
- Different enzyme deficiency
- Sulfoiduronate sulfatase deficiency

Back 78

4. Hunter Syndrome

Front 79

- Peak in 6th-7th decade, up to 35% associated w/ pulmonary hypertrophic osteoarthropathy
- 5% w/ hypoglycemia
- Most often pleural based and pedunculated
- CD34+, CD99+ bland spindle cells
- Patternless growth pattern
- May have hemangiopericytomatous staghorn shaped vessels
- Keloidal type collagen
- Usually benign
- 10-15% malignant

Back 79

107. Solitary Fibrous Tumor

Front 80

- Superior prognosis
- Arise in a hollow viscus
- Most often urinary bladder or vagina
- Less often head & neck in nasal cavity
- Toddler-6 years
- Grossly has grape-like polypoid appearance
- Submucosal cambium layer w/ increased cellularity
- Underlying myxoid change w/ scattered cc & cc w/ eosinophilic cyto & cross striations
- Nuclear myogenin & MYOD1 positive

Back 80

96. Embryonal Rhabdomyosarcoma – Botryoid Variant

Front 81

- T(17;22)
- Pigmented version (melanin) called Bednar tumor
- Tumor of low malignant potential
- Multiple recurrences if incompletely excised
- No epidermal hyperplasia, Clear Grenz zone
- Uniform population of bland CD34+ spindle cells showing storiform pattern & diffuse infiltration into subcutaneous fat w/ residual fat resembling a honeycomb pattern
- Can have fibrosarcomatous transformation w/ more pleomorph. & herringbone pattern
-Whinne the Poo w/ his protruding belly leaves a honey comb on your door mat

Back 81

91. Dermatofibrosarcoma Protuberans

Front 82

- Aka Malignant melanoma of soft parts
- t(12;22)
- 3rd-4th decade
- Distal extremities, especially foot & ankle
- Lobular growth pattern of S100 protein+
- HMB45+ spindle or polygonal cells w/ clear cytoplasm
- Melanosomes seen on electron microscopy

Back 82

104. Clear Cell Sarcoma