Musculoskeletal, CT & Skin patho Flashcards

1
Q

In all 4 cases of Osteogenesis imperfecta, the cause is ……

A

defect in the synthesis of type I collagen (abnormal pro-1(1) or pro-2(1) chains)
* It is inherited as an autosomal dominant trait

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2
Q

What is defect caused by Osteogenesis imperfecta in each of the following organs:

  1. Bone
  2. Eye
  3. Teeth
  4. Ears
  5. Heart
  6. Skin
A
  1. Woven bone instead of trabecular, abnormal arrangement of collagen fibers leading to lax ligaments, fractures
  2. Sclera with blue hue
  3. Small & discolored (dentinogenesis imperfecta)
  4. Deafness due to fractured ossicles
  5. Mitral valve prolapse
  6. Abnormally thin dermis
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3
Q

Define osteopetrosis

A

Hereditary disorder, characterized by increased thickness of cortical bone and narrow medullary bone

  • Bone is brittle
  • Membranous bone are not affected
  • AKA Albers-Schonberg disease
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4
Q

Osteopetrosis is associated with …..

A

Blindness, deafness, anemia, cranial nerve palsies, hydrocephalus

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5
Q

Osteopetrosis is inherited via ……

A

autosomal dominant and recessive pattern

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6
Q

The main cause of osteopetrosis is …….

A

the inability of the osteoclasts to resorb bone

* ALP is elevated

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7
Q

Achondroplasia is the best known form of ……

It is characterized by …………

A

dwarfism

  • short limbs (due to defect in epiphyseal bone formation), frontal bossing, saddle nose & large body
  • Autosomal dominant inheritance
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8
Q

Define osteochondromatosis

A

Hereditary exostoses

* Example is Gardner syndrome

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9
Q

What are the causes for osteoporosis?

A

Estrogen deficiency, low density of bone, lack of exercise, nutritional factor, endocrinopathies

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10
Q

What are the clinical features of osteoporosis?

  • Xray Shows ……
    • Serum values are …….
A

Bone pain & spontaneous fractures, radiolucency of bone

* normal Ca, Phosphorus. ALP serum level is variable

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11
Q

Most susceptible bones to fracture due to osteoporosis are …….

A

vertebrae & femoral neck

* There is thinning of cortical bone in all bones, but the bone histology is normal

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12
Q

Osteomalacia and rickets are both caused by …

A

Vit D deficiency (from chronic renal insufficiency, intestinal malabsorption, or dietary deficiency) leading to disorder of osteoid mineralization.

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13
Q

Rickets occur in children prior to …….

A

closure of epiphysis, causing deformation & bowing of legs, fractures and pain

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14
Q

Rachitic rosary is ….

A

prominent knobs of bone at the costochondral joints of rickets patient
* Deficiency of Ca results in lack of mineralization and an overgrowth of costochondral joint cartilage.

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15
Q

Serum findings in a patient with osteomalacia are …..

A

Low Ca and phosphorus, ALP is elevated (which distinguishes this syndrome from osteoporosis)
* There is diffuse radiolucency of bone on Xray

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16
Q

What are the clinical features of Paget disease?

A

bone pain, deformity and fractures, affecting many bones (polyostotic), increased warmth of the skin overlying the affected bone

  • X ray shows enlarged radiolucent bones
  • ALP is very high
  • Skull enlargement is a classic sign. Impingement of the nerves may cause deafness or facial pain
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17
Q

In Paget disease, the disease progresses from ….. to ……
The resorbed bone is replaced by …….

A

Osteolytic to osteoblastic
* Vascular CT (which mineralizes later), with “mosaic” (or jigsaw) rather than trabecular pattern, with persistent osteoid seam (new non mineralized bone) at the margins

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18
Q

What are the two types of osteomylitis?

A
  1. Pyogenic: caused by “Staph”, Strep, gonococci, H. influenzae
    * Pseudomonas is common in IV users & diabetics
    * Salmonella is common in sickel cell patients
  2. Tuberculous: in 1% of TB cases. Caseating granulomas of bone
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19
Q

What are the specific findings of pyogenic osteomylitis?

A

Necrotic sequestrum, surrounded by new bone (involucrum).

* Brodie abscess is localized abscess withing the bone

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20
Q

Osteoma is …….

Hyperostosis frontalis interna is …….

A

benign tumor of bone.

* osteoma extending in the orbit or the sinuses

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21
Q

Osteoid osteoma is ……

A

benign tumor of the diaphysis of long bones

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22
Q

Osteoblastoma is …..

A

Similar to osteoid osteoma, often in the vertebrae

* Could be malignant

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23
Q

Osteosarcoma is …..
What are the clinical features?
What is the prognosis?

A

malignant bone tumor, associated with Paget disease. Often in the metaphysis ends of bones

  • Localized pain and swelling, weight loss, anemia
  • Prognosis is poor with possible lung metastasis
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24
Q

Codman Triangle is …….

A

Elevated periosteal bone due to underlying tumor

* It is a classic xray sign for osteosarcoma

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25
Q

What is the microscopic finding of osteosarcoma?

A

anaplastic cells with osteoid that is variably mineralized. May contain collagen or cartillage, or could be sclerotic

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26
Q

Osteochondroma is ……

A

exostosis from misdirected growth of growth plate

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27
Q

Enchodndroma is …..

A

solitary benign growth of cartilage, inside the bone

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28
Q

Chondrosarcoma is …….

Usually found in …….

A

malignant tumor of chondroblasts, slower growing than osteosarcoma. There is atypical chondrocytes and chondroblasts

  • spine, pelvis, upper limbs
  • There is pain and swelling
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29
Q

Giant cell tumor is …….

A

malignant tumor containing multinucleated giant cells and atypical stromal cells

  • Rare
  • There is expanding area of radiolucency without a sclerotic rim on Xray, usually in the epiphyseal region of long bones
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30
Q

Ewing sarcoma is ……..
Most common locations are …….
What are the clinical features?

A

malignant neoplasm of undifferentiated mesenchymal cells within the bone marrow

  • Rare
  • Commonly in the Metaphyses, pelvis
  • Tumor erodes through the cortex and invade the surrounding tissue. There is concentric layers of new bone (onion skin)
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31
Q

What are the clinical features of suppurative arthritis?

What are the causative agents?

A

Tender, red & swollen joint. Usually monoarticular. Synovial fluid is cloudy and filled with neutrophils
* Caused by strep., staph. & gonococcus

32
Q

What are the clinical features of tuberculous arthritis?

A

Usually, insidious onset & joint destruction. Often in the spine & hip
* Synovial lining is covered with tubercles and granulation tissue (Pannus), which may cause destruction of the joint space

33
Q

Osteoarthritis is caused by …….

The predisposing factors are ….

A

wear and tear of joints, with erosion of articular cartilage leading to eburnation of bone.

  • Obesity, joint injury, synovial disease
  • Note: less joint space on Xray
34
Q

What are the clinical features of osteoarthritis?

A

joint stiffness, decreased range of motion, effusion, crepitus, and bony swelling

35
Q

Joint mice are …..

A

flakes of cartilage in the joint space from erosion

* Common finding in osteoarthritis

36
Q

Osteophytes are ……..

A

bony projection that are formed along the joint margins

  • Also called bony spurs
  • Common finding in osteoarthritis
37
Q

Heberden nodes are ……….

A

bone swelling found at the distal interphalangeal (DIP) joints of fingers
* Common finding in osteoarthritis

38
Q

In rheumatoid arthritis, …….. is formed against Fc fragment of IgG, resulting in immune complex

A

rheumatoid factor

39
Q

What are the common clinical features of rheumatoid arthritis?

A
  1. Morning stiffness, with low grade fever
  2. Joint swelling, redness & warmth. Ankylosis may develop
  3. Increased neutrophil & decreased mucin in the synovial fluid
  4. High ESR & hypergammaglobulinemia
  5. Erosion & osteoporosis in Xray
  6. Systemically, there is Sjögren’s syndrome, subcutaneous nodules, glaucoma, vasculitis (due to antigen-antibody complex), hepatosplenomegaly
40
Q

Rheumatoid arthritis usually affect ……

A

the small joints in hand and feet, in a symmetrical manner

* There is synovitis with pannus formation (vasculrized mass packed with lymphocytes, macrophage & plasma cells)

41
Q

Rheumatoid nodules are ……

A

connective tissue with central necrosis found in the skin, heart valves, lung, pleura, spleen.
* Skin nodules are on the extensor surfaces

42
Q

Gout is ……

A

deposition of monosodium urate in joints

* There is hyperuricemia

43
Q

What are the types of gout?

A
  1. Primary: 90% of cases, due to underexcretion of urate in urine
  2. Secondary: due to over production of uric acid (disorder in purine metabolism)
44
Q

What are the clinical features of gout?

A

Acute arthritis (swelling, redness & pain). Within 10 years, chronic disability ensues

  • Big toe is the most affected
  • Tophi (urate deposit surrounded by inflammatory cells) are pathognomonic. May form in the helix of ear, bursae, ligaments & kidney
45
Q

Bursae are ……..

A

small, synovial fluid filled sacs, lined by synovial membrane. Act as a cushion for all the major joints

46
Q

Seborrheic keratoses are ……, may appear following ……. or ……..

A

benign tumor, due to sun exposure,
follow inflammatory dermatitis, hormonal therapy, or underlying malignancy (like colon cancer)
* The lesions are gray, greasy, with hyperkeratosis. There could be pseudo horn cysts (filled with keratin)
* Also called basal cell papilloma, or brown warts
* They have “stuck on” appearance

47
Q

Keratoacanthoma is ……

What is the key feature on the lesion??

A

benign squamous lesion in sun exposed areas

  • Rapidly growing pink papule with a keratin filled center, resembles SCC
  • The key feature is the normal (nondysplastic) epidermis on both sides of the central keratin
48
Q

Fibroepithelial polyps (skin tags) are ……

A

benign squamous epithelial lesions covering a fibrovascular core.
* Common finding. High numbers may indicate diabetes

49
Q

Basal cell carcinoma is …..

A

Locally aggressive lesion, but don’t metastasize. The most common skin cancer

  • Occur in sun exposed areas, in faces of fair skin people
  • Palisading cells at the edge of tumor cells nest is a microscopic feature
  • It is a gray papule with heaped up borders and central depression
  • Treated with complete excision
50
Q

Actinic keratoses are …..

A

rough, crusty, red papule up to 1 cm in diameter.

  • Premalignant (may develop into SCC)
  • Associated with sun exposure. Common in fair skinned people
51
Q

Squamous cell carcinoma is ……

What are the causative factors?

A

malignant, often in sun exposed areas.

  • Sun exposure, skin ulcers, long term exposure to hydrocarbons, burns & radiation
  • Grossly, it comes in many forms, with leukoplakia on the mucosal surface (made white by keratin)
52
Q

What is the difference between sun exposed and non sun exposed SCC lesions?

A

Rarely metastasizes (in sun exposed areas),. While on non exposed metastasizes

53
Q

What are the microscopic finding of a SCC lesion?

A

Atypical cells in the epidermis (SCC in situ) or invading the dermis.
* These cells may form squamous pearls (onion skin surrounding a central keratinization)

54
Q

Xanthomas are ……

A

A collection of lipid laden histiocytes with eosinophilic cytoplasm in the dermis, in the form of yellow nodules.
* Associated with hyperlipidemia

55
Q

Strawberry hemangioma is also called ……

A

capillary hemangioma

  • Composed of thick walled capillaries, usually in the first weeks of life
  • Resolve spontaneously
56
Q

Nevocellular nevus is ……

A

benign tumor of nevus cells & melanocytes

  • Could be junctional, compound or intradermal
  • Related to sun exposure.
57
Q

Melanomas tend to spread …….

A

horizontally before vertically.
* Prognosis depend on the depth of vertical invasion
*

58
Q

Lentigo maligna melanoma arises from ……

A

lentigo maligna

* This has the best prognosis

59
Q

Nodular melanoma is …….

A

melanoma with extensive dermal (vertical) invasion. Has the worst prognosis
* Black-brown lesions, found on the skin or mucosa

60
Q

Staging of melanoma depends on …….. . Treatment is …….

A

depth of vertical invasion

* Treatment is complete excision. Chemotherapy and immunotherapy also used

61
Q

Bullous pemphigoid is …..

The cause is probably …..

A

Large, tense, pruritic bullae in the mouth (rare) or lower body

  • The bullae contains eosinophils
  • Circulating antibody (IgG) against the dermoepidermal junction
  • Self limited
  • Rare, but more common than pemphigus vulgaris
62
Q

Pemphigus vulgaris is …….

It is caused by …….

A

small flaccid vesicles, usually on the mucous membranes

  • Caused by circulating antibodies (IgG) against the junctions between the keratinocytes, causing acantholysis (The bullae contain floating keratinocytes)
  • Treatment is steroids
63
Q

Nikolsky sign is used to ……

A

confirm pemphigus vulgaris. By rubbing the skin with the finger

64
Q

Impetigo is caused by …..

A

group A beta hemolytic streps, or staph

  • Eroded pustules covered by honey colored crusts. Highly contagious
  • May lead to glomerulonephritis (poststreptococcal glomerulonephritis)
65
Q

Molluscum contagiosum is ……

A

viral infection, caused by DNA poxvirus (infect only humans)

  • Multiple small, firm, umbilicated papules. Also called water warts
  • There are virus clusters in the keratinocytes
66
Q

Verrucae are caused by …..

A

human papillomavirus (HPV)

  • There is epidermal hyperplasia, with keratosis and parakeratosis
  • Also called plantar wart
67
Q

Fungal infections are usually confined to the ……. . It is commonly caused by ……, ……., …….

A

cornified layer of epidermis

Trichophyton rubrum, Microsporum, Malassezia

68
Q

Define:

  1. Tinea capitis
  2. Tinea corporis
  3. Tinea vesicolor
A
  1. Cradle cap, affects the scalp, usually in children. Caused by Trichophyton & Microsporum
  2. Infects the trunk and extremities in children. Also know as ringworm, but it is not a worm
  3. Causes hyper or hypo pigmented macules
69
Q

Define:

  1. Tinea pedis
  2. Tinea cruris
  3. Tinea unguium
A
  1. Causes athlete’s foot
  2. Causes Jock itch (underwear)
  3. Causes thickening and discoloration of the nail bed. Also called onychomycosis. Hard to treat
70
Q

Scalded skin syndrome is ……

A

caused by S. aureus exfoliative toxin, usually in children (under 6)

  • Several easy to rupture bullae
  • Nikolsky sign may be positive. The disease is confirmed with S. aureus in blood or biopsy
71
Q

Urticaria is …….

A

transient, raised, pruritic pink wheals characterized by dermal edema

72
Q

What are the forms of eczema?

A
  1. Atopic dermatitis: unknown etiology, family history
  2. Contact dermatitis: From irritant exposure
  3. Lichen simplex chronicus: chronic itching causes thickening of the skin, which causes more itching
73
Q

Erythema multiforme is …..

A

hypersensitivity to drugs (penicillin, sulfonamides), infections (herpes, mycoplasma), collagen vascular disease, or malignancies

  • It is uncommon. There is symmetrical involvement of the limbs
  • Usually self limited
74
Q

Acne vulgaris causes …… . It is related to ……..

An allergy to ……. is clearly involved

A

comedones, papules & cysts

  • Hormonal change, drugs, diet, irritants & genetic factors
  • Propionibacterium acnes
75
Q

Rosacea is …..

A

lesion affecting the central face.
* There is erythema, telangiectasias, acneiform lesions (papules, cysts, pustules) and rhinophyma (telangiectasia and hyperplasia of the mucous membrane in the nose)

76
Q

Squamous papilloma infection of the oral mucosa is caused by ………

A

HPV genotype 6 & 11