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Musculoskeletal > Pathology- Ch. 26 Bone Part > Flashcards

Pathology- Ch. 26 Bone Part Flashcards

1
Q

What is mutated in Achondroplasia?

A

-Caused by a mutation in FGFR3

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2
Q

What does the mutation in FGFR3 cause?

A

-inhibits cartilage proliferation and supresses growth

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3
Q

What is the difference between heterozygotes and homozygotes with achondroplasia?

A
  • Heterozygotes have a normal life span
  • Homozygotes do not live long
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4
Q

What are the signs of achondroplasia?

A

Shortened extremities, normal sized trunk, enlarged head, bulging forehead, and depression of the root of the nose.

-Most common cause of dwarfism

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5
Q

Which of the osteogenisis imperfectas (OI) is the only mainly autosomal recessive one?

A

Type II (Lethal)

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6
Q

Which OI types are autosomal dominant?

A

Type I

Type III (75% dom, 25% recessive)

Type IV

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7
Q

What is the cuase of OI type I?

A
  • decreased synthesis of alpha-1, and abnormal pro-alpha1 or pro-alpha2 chains
  • postnatal fractures, blue sclara, normal stature, hearing impairment
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8
Q

Does OI type I get better or worse with age?

A

-better

–>generally improves with puberty

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9
Q

What is the cause and sign of OI type II?

A

-abnormal pro-alpha 1 and 2 result in unstable triple helix

–> **Lethal in utero or shortly after birth **

-Sever fratures and deformity (blue sclara)

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10
Q

What is the major cause and signs of OI type III?

A

-altered pro-alph2 lead to impaired formation of the tripple helix

–> growth retardation, fractures, **progressive kyphoscoliosis, blue sclara becoming white **

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11
Q

Does OI Type III improve or worsen with age?

A

-It is progressive and gets worse with age

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12
Q

What is the major cause of OI type IV?

A

Short pro-alpha2 (unstable tripple helix)

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13
Q

What are the major differeneces between OI Type I and IV?

A

Type IV–> normal sclara and short stature

Type I–> blue sclara and normal stature

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14
Q

What is the main cause of osteopetrosis?

A

-reduced bone resorbtion due to impaired osteoclast activity–> brittle bones

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15
Q

What is the most common mutation associated with osteopetrosis?

A

-mutation in carbonic anhydrase II (CA II) which normally generates protons from CO2

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16
Q

What is the effect of impaired CA II function?

A

-no acidification of the resorbtion pit and the urine

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17
Q

What are other causes of osteopetrosis?

A

-defective Cl channel, proton pump and RANKL

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18
Q

What is Paget disease of bone?

A

-increase in osteoclast activity

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19
Q

What is the transmission pattern of Paget Disease of Bone?

A

Autosomal Dominant

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20
Q

What are the three stages of osteopetrosis?

A

(1) Osteolytic Stage
(2) Mixed osteoclastic-osteoblastic stage
(3) burnt out quiescent osteosclerotic stage

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21
Q

What is the reason for bone weakness in Paget disease?

A

The bone is massive, but is haphazardly laid down and structurally unstable and unsound

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22
Q

How does on differentiate Paget disease of bone and osteopetrosis?

A
  • Paget is a late onset
  • Osteopetrosis is an earlier onset disease
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23
Q

What is a diagnostic feature of patients with Paget disease of bone?

A
  • Increase serum alk. phos.
  • Increased urine hydroxyproline
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24
Q

What tumor are associated with Paget disease?

A

-osteosarcoma

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25
Q

What causes rickets in children?

A

-Vitamin D deficiency

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26
Q

What is rickets called in adults? What is the cause?

A
  • Osteomalacia
  • defective mineralization of bone that has completed development
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27
Q

What is the difference between primary and secondary hyperparathyroidism?

A
  • Primary: autonomous hyperplasia or parathyroid adenoma
  • secondary: prolonged hypocalcemia–> compensatory hypersecretion of PTH
28
Q

What is the overall effect of PTH?

A

Increase Ca resorption and reuptake and increase serum Ca levels

29
Q

What are the four skeletal changes associated with chronic renal disease?

A
  • increased osteoclast activity
  • delayed matrix remineralization (osteomalacia)
  • osteosclerosis
  • growth retardation
30
Q

Retention of what chemical causes the cascade that leads to renal osteodystrophy?

A

Phosphate retention

31
Q

What is osteomyelitits?

A

inflammation of the bone marrow caused by infection.

32
Q

What is the most common cause of pyogenic osteomyelitits?

A

Staph. aureus

33
Q

What is the most common area of infection for tuberculous osteomyelitis?

A

Thoracic and lumbar spine

34
Q

What bones are most often affected in skeletal syphylis?

A

-nose, palate, skull and long bones of the extremities

35
Q
  • A patient complains of severe nocturnal pain that is alleviated by aspirin. A 1.5cm mass is discovered somewhere in the apendicular skeleton.
  • What most likely describes the mass?
A

Osteoid Osteoma

36
Q

Another patient complains of pain in the lower spinal area. The pain is dull, achy and no relief is achieved with aspirin or other salicylates. A mass of 3cm greatest dimension is discovered.

-What most likely describes the mass?

A

-Osteoblastoma

37
Q

What is a characteristic action of osteosarcomas?

A

-produce bony matrix

38
Q

Are ostoesarcomas malignant?

A

Yes

39
Q

A 25 year old male presents with swelling in his left knee and intense pain. A large gray-white gritty growth is discovered with Codman triangles, and biopsied. P53 and RB mutations are both present as well as tumor giant cells with hyperchomatic nuclei. What is the diagnosis?

A

Osteosarcoma

40
Q

What are the two age groups that are most affected by osteosarcomas?

A

-2nd decade and then late in life (can be attributed to paget disease)

41
Q

What is the most coomon benign bone tumor?

A

Osteochondroma

42
Q

What is mutated in an osteochondroma caused by multiple hereditary exostosis syndrome?

A

EXT1 and EXT2

43
Q

What is the usual shape of the osteochondroma?

A

Mushroom shaped

44
Q

What is a chondroma?

A

-benign tumor or hyaline cartilage that occur in bones of encondral origin

45
Q

Where does an enchondroma occur? How about a subperiosteal or juxtacortical chondroma?

A
  • Enchondromas occur in the medullary cavity
  • Subp. and juxt. chondromas occur on the surface of the bone
46
Q

What is ollier disease? How does it differ from maffucci syndrome?

A
  • disease of multiple enchonromas
  • Maffucci syndrom is associated with hemangiomas as well
47
Q

A 17 year old male presents with a painful growth in the knee. The growth is biopsied and a chicken wire pattern of mineralization is noted with necrosis and mitotic acitivty.

  • It is noted that the tissue is composed of sheets of compact polyhedral chonroblasts that have defined borders, pink cytoplasm and hyperlobulated nuclei.
  • What is the diagnosis? Is it rare?
A
  • Chondroblastoma
  • Rare
48
Q

What is the prevalence of chondromyxoid fibromas?

A
  • rarest of the cartilage tumors
  • more coomon in med in their 20’s
49
Q

What is the morphology of a chonromyxoid fibroma?

A
  • 3 to 8cm
  • glistening tan-gray
  • large hyperchromatic nuclei and non-neoplastic osteoclast tybe giant cells
  • cell processes that extend through the matrix and touch eachother
50
Q

What are the most common sites of the malignant chondrosarcoma?

A
  • Shoulder
  • pelvis
  • proximal femur and ribs
51
Q

What is the preferential tissue of spread for the chondrosarcoma?

A

-lungs and skeleton

52
Q

Are chondrosarcomas more common later in life or early in life?

A

Later in life, 40s and older

53
Q

What is the most common age rang of fibrous corical defects? w big are they usually and what if they get bigger?

A
  • most common in children (>2y/o)
  • Normally no more than 0.5cm, but if they grow upwards of 5 or 6cm they are then classified as **non-ossifying fibromas. **
54
Q

What is the morphilogical appearance of non-ossifying fibromas?

A
  • sharply demarcated radilucencies that are surrounded by a thin fim of sclerosis
  • also contain multinucleated giant cells or clusters of foamy macrophages
55
Q

What causes fibrous dysplasia?

A
  • Gain-of-function mutation in the GNAS gene.
  • production of hyperactive guanyl nucleotie binding protein which lead to abnormal growth
56
Q

What are the symptoms of McCune-Albright Syndrome?

A

-polyostotic fibrous dysplasia associated wtih cafe-au-lait skin pigmentation

57
Q

What is a characteristic histalogical appearence of fibrous dysplasia?

A

-shapes of trabeculae tha mimic Chinese letters

58
Q

What are fibrosarcomas?

A

-Collagen producing sarcomas with a fibroblastic phenotype

59
Q

What is the mophology of a fibrosarcoma?

A

-large, hemorrhagic, tan-white masses that destroy the underlying bone and extend into soft tissue

60
Q

What is the difference between PNET (primitive neuralectodermal tumor) and EWS (Ewing Sarcoma)?

A
  • EWS are not differentiated
  • PNETs are neurally differentiated
61
Q

What is the mutation involved in EWS family of tumors?

A

translocation: (11;22) (q24;q12)

62
Q

What is the appearence of EWS and PNET?

A
  • arise in the medullary cavity, indave the cortex, periosteum and soft tissue.
  • soft tan-white and contain areas of hemorrhage and necrosis
63
Q

What color is a giant-cell tumor?

A

Red-brown

64
Q

Are giant-cell tumors malignant or benign? Where do they normally arise?

A
  • benign but locally agressive
  • around the knee
  • 20-40’s
65
Q

What are the most common origins of skeletal metastases in adults?

A

-prostate, breast, kidney, lung

66
Q

Most common origins of skeletal metastases in children?

A
  • neuroblastoma
  • Wilms tumor
  • osteosarcoma
  • EWS
  • Rhabdomyosarcoma

Musculoskeletal (9 decks)

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