NEURO MSK DERM ENDO Flashcards

1
Q

When the brain undergoes infarction, which cells are the first to be called in?

A

Neutrophils? So first there is red neuron formation then there are neutrophils and then lastly, the microglia come in

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2
Q

Stain for GBM

A

GFAP

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3
Q

What kind of amyloid is present in Alzheimers? Explain how APP gets transformed to this

A

A-beta amyloid; Normally, APP is degraded by an alpha secretase but in Alzheimers it is degraded by a Beta-secretase leading to the abnormal protein structure called A beta amyloid

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3
Q

Psammoma bodies are typical of which CNS tumor

A

meningioma

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3
Q

How do you test for Acromegaly?

A

failur to suppress GH after an oral load of glucose

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3
Q

What is overexpressed in achondroplasia?

A

FGF3

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3
Q

Describe the histology of the skin cancer that predominately affects the upper lip

A

nodules of basal cells with peripheral pallisading

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3
Q

Which type of basal cell carcinoma can metastasize?

A

morphea subtype

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3
Q

What is increased in an ephelis?

A

(Freckle; increased number of MELANOSOMES, not melanocytes)

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4
Q

If a hydrosyrinx lead to a Horner syndrome, which tract is most likely affected?

A

Hypothalamothalamic

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4
Q

Classic cause of an intracerebral hemorrhage

A

rupture of charcot Bouchard aneurysm

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4
Q

What is the most accurate name for Mad Cow Disease?

A

Variant Creutzfeld Jakob disease

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4
Q

What is the cause of multinodular goiters (and ultimately, toxic multinodular goiters)?

A

Iodine deficiency

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4
Q

When do you see osteitis fibrosa cystica? Renal osteodystrophy?

A

primary hyperparathyroidism (parathyroid adenoma); Secondary hyperparathyroidism in CKD

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4
Q

How does a person get osteomyelitis of the epiphysis? Metaphysis?

A

Epiphysis = open wound; Metaphysis = transient bacteremia

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4
Q

Endomysial inflammation

A

Polymyositis (NOT to be confused with anti-endomysial antibodies seen in celiac dz)

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4
Q

What may you see in the nails of a psoriasis patient?

A

pitting of the nails

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4
Q

Which infection is associated with lichen planus?

A

chronic hepatitis C

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4
Q

Which 2 skin cancers arise from the basal layer?

A

basal cell carcinoma; melanoma

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5
Q

What is the precursor molecule to melanin? Where in the melanocyte is melanin synthesized?

A

Tyrosine; melanosome

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6
Q

What is a Duret hemorrhage?

A

Brainstem hemorrhage

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6
Q

What is the Orphan annie nucleus seen in? Hurthle cell change? Amyloid stroma? (ALL WITH RESPECT TO THYROID)

A

Orphan Annie nucleus seen in papillary carcinoma; Hurthle cell in Hashimoto; Amyloid stroma in medullary CA of thyroid

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6
Q

How do papillary carcinoma of the thyroid and follicular carcinoma spread?

A

Papillary = LN (jugulodigastric, juguloomohyoid); Follicular = hematogenous

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6
Q

Who gets Hyperosmolar non-ketotic coma?

A

Type II DM only due to hyperglycemia

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6
Q

Inward bending of ribs with anterior protrusion of the sternum

A

Pigeon Breast Deformity

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6
Q

What would you see with erythrasma on wood lamp? Bug?

A

coral red (confused with tinea cruis), Corynebacterium minitussimum

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7
Q

Medial Tx of A) prolactinoma B) GH adenoma

A

A) bromocriptine B) octreotide

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7
Q

Mnemonic for hypercalcemia

A

Stones, painful boans, abdominal groans, psychic moans

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7
Q

What is rheumatoid factor?

A

IgM autoantibody against Fc of IgG? Anti-citrullinated peptide is better

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7
Q

Velvet-like skin

A

Acanthosis nigricans

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8
Q

What is the key histological feature to tell you that you are dealing with follicular carcinoma of the thyroid?

A

The cancer has broken through the capusle of the follicle

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9
Q

Explain the pathology of Friedrichs Ataxia

A

Mutated Frataxin leads to an inability of mitochondria to regulate iron and leads to damage of Cerebellum and SPC

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10
Q

What fluid is secreted by the joint capsule (synovium)?

A

hyaluronic acid

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11
Q

Neuroendocrine tumor of bone

A

Ewings sarcoma t(11;22)

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12
Q

A Crohn’s fistula draining onto the skin may predispose to what CA?

A

SCC

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13
Q

A coinlike stuck on skin lesion likely has what histology?

A

keratin pseudocysts

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14
Q

What is the most common cause hypothyroidism in areas where iodine levels are adequate?

A

Hashimoto thryoiditis

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15
Q

What is anti-smooth muscle Ab assoc with?

A

Autoimmune Hepatitis

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15
Q

Another word for subacute granulomatous thyroiditis

A

De Quervain Thyroiditis

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15
Q

What is the major life-threatening event that occurs in DM II?

A

Hyperosmolar non-ketotic coma (high glucose causes a life-threatening diuresis with hyperosmolarity)

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16
Q

What distinguishes a large hydrosyrinx from ALS?

A

ALS often involves the hands and syringomyelia does as well since it usually affects C8-T1 however, ALS does not have sensory signs

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17
Q

Which MSK pathology is likely to involve a myelophthisic anemia with hepatosplenomegaly?

A

Osteopetrosis due to filling of the marrow with bone

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18
Q

What is the difference in neurofibrillary tangles of Pick’s Dz and Alzheimer’s?

A

None really, they are both composed of tau protein but they occur in different locations

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19
Q

Most common cause of targetoid rash

A

HSV but also mycoplasma pneumoniae

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20
Q

Fibroblast proliferation after an MI is most similar to what action in the repair of a stroke?

A

Reactive gliosis (first it is red neuron (like contraction band necrosis) then neutrophil then microglia (like MO) then reactive gliosis (like fibroblast))

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20
Q

Why are calcium and phosphate usually opposites?

A

Because phosphate binds calcium. So if calcium goes up, phosphate goes down.

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20
Q

What is orthokeratosis?

A

hyperkeratosis with loss of nuclei

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22
Q

Which HLA is associated with Hashimoto thyroiditis?

A

HLA DR5

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23
Q

What is parakeratosis?

A

hyperkeratosis with retention of nuclei

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24
Q

Why are adult women more susceptible to meningiomas than men?

A

meningiomas express the estrogen receptor (tumors of arachnoid tissue)

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24
Q

What metabolic abnormality does diabetic ketoacidosis cause?

A

wide anion gap metabolic acidosis

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25
Q

Death in Duchenne Muscular Dystrophy

A

Cardiac or Respiratory failure (recall that X-linked dilated cardiomyopathy is a deficiency in dystrophin)

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26
Q

What is the most common cause of primary hyperparathyroidism?

A

Parathyroid adenoma

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26
Q

Differentiate VIPoma sx from Somatostatinoma sx

A

VIPoma = Watery Diarrhea, Hypokalemia, Achlorhydria; Somatostatinoma = achlorhydria (no gastrin) and steatorrhea

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26
Q

What are the spines in the stratum spinosum?

A

desmosomes

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27
Q

What is the geographical predisposition to multiple sclerosis?

A

more commonly seen in areas away from the equator

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29
Q

What is the “acral” surface?

A

palmar

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30
Q

Why is the implication of Propionibacterium acnes important?

A

It breaks down sebum into PRO INFLAMMATORY fatty acids which results in a pustule

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31
Q

Which thyroid issue commonly follows a viral infection?

A

De Quervain Thyroiditis (subacute granulomatous thyroiditis)

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32
Q

Anti-Jo-1 Ab

A

Dermatomyositis

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34
Q

Which degenerative disease results in a loss of cholinergic neurons? GABAergic?

A

Alzheimer; Huntington

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34
Q

Tx of LEMS

A

remove the cancer causing paraneoplastic syndrome

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35
Q

Through which foramen does the MMA travel through?

A

Foramen spinosum

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36
Q

Treatment of this dermatitis involves removal of the offending agent and corticosteroid creams

A

contact dermatitis

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37
Q

Translocation in Ewings Sarcoma? Type of cell

A

t(11;22)? Neuroendocrine cell

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37
Q

Which skin cancer is S-100 positive?

A

melanoma

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38
Q

4 subcategories of melanoma

A

Superficial spreading, lengtigo maligna, nodular (worst prognosis), acral lentiginous

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39
Q

Exfoliative toxins of staph aureus cause acantholysis of what layer?

A

stratum granulosum

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40
Q

Name 3 common autoantibodies in Hashimoto thyroiditis

A

Anti-thyroglobulin, Anti-thyroid peroxidase, Anti-microsomal

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42
Q

What cell is most responsible for pannus formation and joint deformity in RA?

A

myofibroblast causes joint contracture

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43
Q

Epidermal hyperplasia associated with insulin resistance

A

Acanthosis nigricans

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44
Q

Reduction of trabecular bone mass

A

osteoporosis

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45
Q

Normally, Tau is associated with what structure?

A

Microtubules

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45
Q

What is acanthosis?

A

Epidermal hyperplasia

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47
Q

What is hyperpigmentation of the cheeks in pregnancy?

A

melasma

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49
Q

Which areas of the brain are the most susceptible to global cerebral ischemia?

A

Watershed areas

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50
Q

Which thryoid cancer can present with hypocalcemia?

A

Medullary carcinoma since it is a cancer of C-cells which secrete calcitonin

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50
Q

Discuss the pathogenesis of diabetic retinopathy

A

Glucose converted to sorbitol by aldose reductase in retinal pericytes leads to microaneurysms

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50
Q

Which subcategory of melanoma is not related to sun exposure?

A

Acral lentiginous

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51
Q

How are most cases of ALS inherited?

A

Sporadic; however, familial forms are associated with SOD1 mutations (zinc copper superoxide dismutase)

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52
Q

What are the 2 serious forms of erythema multiforme?

A

Stevens Johnson syndrome and Toxic Epidermal Necrolysis (TEN is a medical emergency)

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53
Q

Why would a hypothyroid patient have a large tongue?

A

Because of myxedema (not pretibial) but GAGs can accumulate

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53
Q

Who gets acral lentiginous melanoma?

A

Asians and Africans

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55
Q

What are rheumatoid nodules?

A

central zones of necrosis surrounded by histiocytes (looks like caseating granuloma)

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55
Q

What is a compound nevus?

A

A junctional nevus that grows into the dermis

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57
Q

Kimmelsteil-Wilson nodules involves sclerosis of what renal constituent?

A

mesangium

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58
Q

What is the leading cause of hydrocephalus in newborns?

A

Cerebral aqueduct stenosis

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58
Q

What is the histology of beta cell exhaustion in DM II?

A

Amyloid deposition in the parenchyma

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59
Q

Which type of herniation is most likely to affect the oculomotor nerve?

A

Uncal herniation (medial temporal lobe)

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60
Q

2 patients who are susceptible to central pontine myelinolysis

A

Alcoholics and Chronic liver disease

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62
Q

How is a nevus different from a freckle?

A

A nevus is a benign proliferation of melanocytes; a freckle is just increased number of melanosomes

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63
Q

What is the Auspitz sign?

A

Occurs in psoriasis when you peel the skin, it is tearing off of the epidermis above the dermal papilla vessel

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64
Q

What is the most common neoplastic cause of chronic adrenal insufficiency?

A

lung cancer mets

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65
Q

What is the significance of aldose reductase in peripheral neuropathy in DM?

A

Converts glucose to sorbitol which leads to Schwann cell death

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66
Q

Brain disorder that is due to inability to attach CoA to long chain fatty acids

A

Adrenoleukodystrophy

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66
Q

What is a well-differentiated SCC that comes on quickly and then regresses (on skin)

A

keratoacanthoma

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68
Q

Paternal age is significant for which MSK path

A

Achondroplasia

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69
Q

IgG against desmoglein

A

pemphigus vulgaris (IgG antibody to desmoglein)

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70
Q

What is a junctional nevus?

A

A benign growth of melanocytes at the dermal epidermal jxn

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72
Q

What are 2 associations of Arnold Chiari malformations?

A

most cases involve meningomyelocele (this is what pulls the medulla down) and syringomyelia

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72
Q

What are two things you’ll see on histology of papillary carcinoma of the thyroid?

A

Psammoma bodies and Orphan annie nuclei

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73
Q

What are 4 causes of hypopituitarism?

A

Obstructive adenomas, Sheehans, Apopexy, Empty sella syndrome

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74
Q

What pituitary issue is a neurosurgical emergency?

A

pituitary apopexy (bleeding into an adenoma)

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75
Q

What is Hurthle cell change?

A

Eosinophilic metaplasia of cells lining thyroid follicles in Hashimoto thyroiditis

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75
Q

Which arthritis gets better throughout the day?

A

RA

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76
Q

How is albinism different from vitiligo?

A

Albinism is the congenital lack of pigment; vitiligo is an autoimmune destruction of melanocytes

77
Q

Where do you see Pautrier microabscesses? Munro microabscesses?

A

Sezary syndrome and Mycosis fungoides; Psoriasis

78
Q

What are the lipid abnormalities of graves disease?

A

HYPOcholesterolemia

78
Q

Explain why pemphigus vulgaris has a Nikolsky sign

A

This is an easy ability to rupture the bulla; this is because there is only acantholysis of the stratum spinosum which is relatively superficial? This occurs because the antibodies are against the stratum spinosum desmosomes

79
Q

Cystic lesion in cerebellum with mural nodule

A

Pilocytic astrocytoma, Rosenthal fibers GFAP (+)

80
Q

What is erythema multiforme with oral mucosa and lip involvement referred to as?

A

Stevens Johnson syndrome

81
Q

Name 3 leukodystrophies and what is deficient

A

Krabbe disease (galactocerebrosidase); Metachromatic leukodystrophy (most common, arylsulfatase A); Adrenoleukodystrophy (inability to add coA to long chain FA’s)

81
Q

What kind of isotype are oligoclonal bands in MS?

A

IgG

83
Q

2 tumors that familial retinoblastoma increases risk for

A

retinoblastoma and osteosarcoma

85
Q

Which skeletal disorder is treated with bone marrow transplant, why?

A

Osteopetrosis because the osteoclasts are defective and they are from monocytes

86
Q

Which type of CNS infarction is caused by hyaline arteriolosclerosis?

A

lacunar infarct

87
Q

Name the 4 Thyroid Cancers

A

Papillary, Follicular, Medullary, Anaplastic

89
Q

Degenerative Joint Dz is also called

A

Osteoarthritis

90
Q

Which meningeal layers are affected by meningitis?

A

arachnoid and pia (leptomeninges)

92
Q

3 structures affected by uncal herniation

A

CN III, PCA, paramedian artery

92
Q

What does a person with mad cow disease have?

A

Variant Creutzfeld Jakob disease

93
Q

Most common location for ependymoma

A

4th ventricle

94
Q

What is the precursor lesion to SCC?

A

actinic keratosis

95
Q

What is missing in a berry aneurysm in comparison to most vessels?

A

there is no medial layer? So the tunica media does not develop at the branch point (i.e. circle of willis) this causes formation of the aneurysm

96
Q

Which skin cancer comes from neural crest?

A

melanoma

97
Q

Name 4 blistering dermatoses

A

Pemphigus vulgaris, Bullous pemphigoid, Dermatitis herpetiformis, Erythema multiforme (SJS and TEN)

98
Q

Only tumor to arise in the epiphysis

A

Giant Cell tumor of bone (osteoclastoma)

100
Q

Why is acne vulgaris associated with puberty?

A

sebaceous (holocrine) glands have androgen receptors

102
Q

What is the cause of the amyloid background in medullary carcinoma of the thyroid?

A

Calcitonin deposits as amyloid

103
Q

Linear pattern of IgG immunofluorescence at the dermal epidermal junction of skin

A

Bullous pemphigoid - IgG at the hemidesmosomes

105
Q

What is the major risk of Riedel Fibrosing Thryoiditis?

A

It may invade other structures such as the airway

106
Q

Explain the exophthalmos and pretibial myxedema of Graves disease

A

The excessive TSH stimulation actually causes an increase in GAG synthesis; thus, THESE TISSUES EXPRESS THE TSH RECEPTOR

106
Q

There is an increased risk of what cancer in Hashimoto?

A

Marginal Zone Lymphoma (a B cell cancer)

106
Q

Sunburst appearance on Xray of metaphysis

A

osteosarcoma

108
Q

Which dopamine receptors are stimulatory and inhibitory in the nigrostriatal pathway?

A

D1 is stimulatory; D2 is inhibitory but technically leads to disinhibtion

110
Q

What is vitiligo?

A

autoimmune destruction of melanocytes

111
Q

What inherited disorder has the same Sx as poliomyelitis? What is the route for polio?

A

Werdnig Hoffman; fecal oral

113
Q

A malignant proliferation of parafollicular cells is seen in which cancer?

A

Medullary Carcinoma (from ultimobranchial body)

114
Q

Which disease is associated with Wickham striae?

A

Lichen planus

115
Q

Discuss the high dose dexamethasone suppression test

A

will decrease ACTH secretion from pituitary but not an ectopic site

116
Q

What is the actual cause of erythema multiforme?

A

Hypersensitivity reaction to something (M. pneumoniae, HSV, drug)

116
Q

What does an intradermal nevus arise from?

A

A compound nevus (junctional nevus with dermal extension) that has lost its junctional part

117
Q

IgA at the tips of dermal papillae

A

Dermatitis herpetiformis (Tx dapsone, not in G6PD def)

118
Q

Explain why CKD causes secondary hyperparathyroidism

A

There is decreased phosphate excretion which binds to calcium, this decreases the freely ionized calcium and causes PTH to be secreted

119
Q

What is the risk associated with Osteochondromas?

A

The cartilaginous cap of the osteochondroma may transform to chondrosarcoma

121
Q

Why does cortisol waste muscles?

A

The idea is to provide amino acids for gluconeogenesis

122
Q

Explain the metabolic acidosis seen in osteopetrosis

A

There is metabolic acidosis because there is a deficiency of carbonic anhydrase that is not only in osteoclasts but also the renal tubules, thus less HCO3 is reabsorbed

124
Q

Malignant cell in osteosarcoma

A

osteoblast

126
Q

HLA type in RA?

A

HLA DR4

128
Q

3 phases of Pagets Dz of bone

A

Osteoclastic; Mixed osteoclastic osteoblastic; Osteoblastic

129
Q

Which HLA is psoriasis associated with?

A

HLA-C

130
Q

Sensory loss of pain and temp with preserved fine touch in a cape like distribution

A

Syringomyelia

131
Q

Breslow thickness is a staging technique for what cancer?

A

Depth of invasion of melanoma

132
Q

What is the treatment for osteopetrosis

A

Bone marrow transplant to replace the defective osteoclasts

133
Q

What is the etiology of Paget Dz of bone?

A

Probably viral

133
Q

What kind of amyloidosis may be seen in rheumatoid arthritis?

A

Secondary amyloidosis = SAA –> AA (due to chronic inflammation)

134
Q

What would be seen in the vessel of a lacunar infarct?

A

Hyaline arteriolosclerosis

136
Q

Which thryoid cancer cannot be identified using an FNA?

A

Follicular carcinoma because you need to be able to see the invasion through the basement membrane

137
Q

Differentiate pain mgmt in osteoid osteoma and osteoblastoma

A

Osteoid osteomas respond to asprin but osteoblastomas do not

138
Q

Which seronegative spondyloarthropathy is associated with aortitis?

A

Ankylosing spondylitis is assoc with aortitis and uveitis

139
Q

What is the most common cause of death in Alzheimers?

A

Infection because they become mute and bedridden

141
Q

What is the most common cause of a dyshormonogenetic goiter?

A

Lack of thyroid peroxidase (can present as cretinism)

142
Q

What is Ritter’s disease?

A

Staphylococcal scalded skin syndrome

144
Q

Umbilicated papules

A

Molluscum contagiosum

145
Q

Where do the following tumors arise 1) Osteoid osteoma and Osteoblastoma 2) Osteochondroma 3) Osteosarcoma 4) Giant Cell tumor 5) Ewing sarcoma 6) Chondroma 7) Chondrosarcoma

A

1) In the cortex of long bones 2) laterally from metaphysis 3) metaphysis 4 )epiphysis 5) diaphysis 6) medulla of small bones 7) medulla of large bones

147
Q

Explain why a thrombotic stroke causes a pale infarct and an embolic stroke causes a hemorrhagic infarct

A

A thrombotic stroke chokes off blood supply; an embolic stroke will get lysed and cause a hemorrhagic stroke

148
Q

2 complications of Paget Dz of Bone

A

High output cardiac failure (due to AVMs) and Osteosarcoma

150
Q

Which type of “matter” is affected in degenerative disorders?

A

GREY, you are losing motor nuclei, deep basal nuclei or BOTH

151
Q

3 Dz with leonine facies

A

Congenital syphilis, Paget Dz of bone, Hansen’s disease (lepromatous form)

153
Q

Which skin cancer has peripheral pallisading?

A

basal cell carcinoma

155
Q

Where does most of the arterial hyalinzation in DM occur in the kidney?

A

Efferent arteriole (increases risk of hyperfiltration injury)

156
Q

Which myopathy is associated with gastric cancer?

A

Dermatomyositis

157
Q

How do you Tx contact dermatitis?

A

Remove offending agent and give glucocorticoids

158
Q

How would you treat a patient that has hypothyroidism following a viral illness?

A

De Quervain Thyroiditis is usually self limited

159
Q

2 situations you see cold nodules on thyroid

A

Adenoma and carcinoma so warrants Bx (Hot nodules are in Graves and Nodular Goiter)

160
Q

Name a childhood CNS malignancy caused by a tumor of neurons (not glia)

A

medulloblastoma (neuroectoderm–granular cells of cerebellum)

161
Q

Which HLA types are associated with DM (2)?

A

HLA-DR3 and HLA-DR4 (type IV hypersensitivity)

162
Q

Keratin pseudocysts are the hallmark of this

A

Seborrheic keratosis

163
Q

Name 3 seronegative spondyloarthropathies

A

Ankylosing spondylitis, Psoriatic arthritis, and Reiters

164
Q

2 syndromes associated with Berry aneurysm predisposition

A

Marfans Syndrome Autosomal Dominant PKD

166
Q

What kind of necrosis occurs in an ischemic stroke?

A

Liquefactive necrosis; it is ALWAYS THIS WAY IN THE CNS

167
Q

What is a keratoacanthoma?

A

A sporadic SCC that is well differentiated, comes on rapidly and regresses rapidly

168
Q

Type of hypersensitivity in eczematous dermatitis. Type in contact dermatitis

A

Type I; Type IV

170
Q

Where do osteochondromas arise?

A

Lateral projections from the metaphysis

171
Q

How to you Tx normal pressure hydrocephalus

A

ventriculoperitoneal shunt

172
Q

What autosomal dominant disorder predisposes to melanoma (not xeroderma pigmentosum)

A

dysplastic nevus syndrome; note that xeroderma pigmentosum also predisposes

174
Q

What is the fatal complication of Graves disease?

A

Thyroid storm (if under stress, i.e. childbirth, surgery)

175
Q

Which skin disorder has a tombstone appearance of basal cells?

A

Pemphigus vulgaris, the basal cells remain attached to the basement membrane

176
Q

Where are metastatic CNS tumors usually located?

A

Grey-White Jxn

178
Q

What should you think if there is numbness in tingling particularly in a circumoral pattern?

A

low calcium

179
Q

What is the sign of Leser Trelat associated with?

A

This is a random eruption of several seborrheic keratoses and suggests underlying GI carcinoma

180
Q

Which thyroid issue mimics anaplastic carcinoma of the thyroid but lacks malignant change?

A

Reidel Fibrosing Thryoiditis

181
Q

Malignant tumor of osteoblasts

A

osteosarcoma

181
Q

Regarding bullous pemphigoid and pemphigus vulgaris, in which is the oral mucosa spared?

A

bullous pemphigoid

183
Q

Perimysial inflammation

A

Dermatomyositis

184
Q

The process of genetic anticipation occurs during what reproductive process?

A

spermatogenesis (so in other words, dad is more responsible than mom for earlier onset of Huntington in their offspring)

186
Q

Discuss empty sella syndrome

A

herniation of arachnoid and CSF into the sella turcica which compresses and destroys the pituitary gland

187
Q

Rosenthal fibers

A

Pilocytic astrocytoma

189
Q

Explain the drop in insulin seen in late Diabetes mellitus II

A

Beta cell exhaustion with AMYLOID DEPOSITION

190
Q

Familial Cases of Alzheimers are assoicated with what protein? What about Down’s?

A

Presenelin 1 and 2; APP

191
Q

What is Toxic Epidermal Necrolysis?

A

severe form of Stevens Johson Syndrome (form of erythema multiforme) that is characterized by diffuse sloughing of skin

192
Q

In which cancer would you find a lipoblast?

A

liposarcoma

193
Q

RET mutations are important in which thyroid cancer?

A

medullary (may be prophylactically excised)

193
Q

What is the cause of psoriasis?

A

excessive keratinocyte production

194
Q

Why would Chediak Higashi predispose to basal cell carcinoma?

A

It causes albinism (LYST mutation)

196
Q

What is the conformational change that happens to prion protein in prion diseases?

A

Changes from an alpha helical structure to a beta helical structure

197
Q

What is defective in osteopetrosis?

A

Osteoclast function (no carbonic anhydrase II, lack of acidic environment for reabsorption)

198
Q

This CNS tumor may metastasize to the cauda equina

A

medulloblastoma (neuroectoderm–granular cells of cerebellum)

199
Q

What is a Munro microabscess?

A

collection of neutrophils in the stratum corneum in psoriasis

201
Q

Common cause of death in Huntington

A

Suicide

202
Q

Saw-tooth appearance of dermal epidermal junction

A

Lichen planus

203
Q

Reticular white lines (Wickham striae) on top of pruritic, planar, polygonal, purple papules

A

Lichen planus

204
Q

2 drugs that may cause nephrogenic DI

A

lithium, demeclocycline

206
Q

What is pseudohypoparathyroidism? If this is inherited in an AD pattern what will ther person look like?

A

End organ RESISTANCE to PTH; short stature and short 4th and 5th digits

207
Q

What kind of goiter is observed in Graves Disease?

A

Diffuse Goiter since there is constant TSH stimulation everywhere

208
Q

Cells affected by SSPE

A

ALL! It is PANencephalitis

209
Q

Explain why chronic hypertension may cause either a lacunar infarct or a Charcot Bouchard aneurysm

A

Hyaline arteriolosclerosis can cause a lacunar infarct or it may weaken the wall of the vessel and lead to the formation of a Charcot Bouchard aneurysm

210
Q

What is the autoimmune destruction of melanocytes referred to as?

A

vitiligo

212
Q

What relieves an insulinoma medically?

A

glucose

213
Q

Homer wright rosettes

A

medulloblastoma (neuroectoderm–granular cells of cerebellum)

214
Q

Where does Ewings Sarcoma arise?

A

Diaphysis

216
Q

Describe the histology of the skin cancer that predominately affects the lower lip

A

keratin pearls

217
Q

The presence of charcot leyden crystals and curschmann spirals in sputum suggest an association with what kind of dermatitis?

A

Eczematous or atopic dermatitis (type I hypersens)

218
Q

What are the 2 general paradigms for symptoms in degenerative disorders?

A

If cortical degeneration = dementia; If basal ganglia or deeper structure degeneration = movement disorder

220
Q

What is a precursor lesion to melanoma?

A

Dysplastic nevus, literally dysplasia that arises in a nevus; HOWEVER, usually melanomas arise in areas of skin that did not have nevi

221
Q

What is melasma?

A

hyperpigmentation of cheeks in pregnancy

222
Q

Scanning speech is most similar to what?

A

Alcohol intoxication (MS ppl talk like drunk ppl)

224
Q

Why do you give K in DKA which is a hyperkalemic metabolic acidosis?

A

Because when you give insulin they will become hypokalemic

225
Q

Why does erythema multiforme have a targetoid rash?

A

The center is necrosis surrounded by areas of inflammation (erythema)

226
Q

T/F: ALS is associated with a Babinski sign

A

It may be (and probably is) but that would depend on whether the LMN or UMN signs predominate

227
Q

Scalloped colloid

A

Graves disease

228
Q

Periodic sharp waves seen on EEG

A

Creutzfeld Jakob

230
Q

Which thyroid cancer often invades local structures?

A

Anaplastic (note: the benign condition, Reidel Sclerosing Thyroiditis also can do this)

231
Q

regions of necrosis surrounded by pseudopallisading tumor cells and endothelial proliferation

A

GBM

232
Q

People taking human growth hormone or getting corneal transplants are at risk for what?

A

CJD

233
Q

Benzoyl peroxide and vitamin A derivatives are used to treat _________

A

acne vulgaris

234
Q

What predisposes the elderly to subdural hematomas

A

Age related cerebral atrophy

235
Q

What is an eosinophilic structure in the cell of a substantia nigra of PD pt represent?

A

alpha synuclein lewy body

236
Q

Fishnet immunofluorescent pattern on skin biopsy

A

Pemphigus vulgaris (IgG against desmoglein in stratum spinosum)

237
Q

What is seen on histology of Hashimoto thyroiditis?

A

Germinal centers and Hurthle Cell change

239
Q

Where is the classic location for basal cell carcinoma? SCC?

A

upper lip; lower lip

240
Q

Which type of diabetes can present with DKA?

A

Type I only

242
Q

Differentiate multinodular goiter from toxic multinodular goiter

A

A multinodular goiter is just an enlarged thyroid gland with nodules; a TOXIC multinodular goiter is when these nodules become independent of TSH and result in thyrotoxicosis

243
Q

What is the most common cause of isolated alkaline phosphatase in an older pt?

A

Paget Dz of Bone

244
Q

Sausage fingers and toes

A

Psoriatic arthritis

245
Q

What is the most common type of thyroid carcinoma?

A

Papillary Carcinoma

246
Q

What is the most common cause of chronic adrenal insufficiency in U.S.? Developing world?

A

Addison’s Autoimmune Adrenalitis; TB

247
Q

Why doesnt bullous pemphigoid have a Nikolsky sign?

A

because the acantholysis occurs at the dermal epidermal junction due to antibodies against the hemidesmosomes that are situated there = TENSE BULLAE

248
Q

What is the HLA association with MS?

A

HLA-DR2

249
Q

Which 2 subtypes of melanoma have radial growth and good prognosis

A

superficial spreading and lentigo maligna

250
Q

What is the mechanism by which MPTP and possibly paraquat causes PD?

A

damages mitochondria in the substantia nigra = cell death

251
Q

Codman triangle

A

Dragging of the periosteum in an osteosarcoma (osteoblastic tumor) occurs in metaphysis

252
Q

How would empty sella syndrome present?

A

hypopituitarism

254
Q

Which CNS tumor occurs in brain parenchyma and is calcified?

A

oligodendroglioma

255
Q

What is sequestrum and involucrum?

A

Sequestrum = lytic focus of osteomyelitis; involucrum = sclerotic surrounding portion

256
Q

Autoimmune destruction of desmosomes between keratinocytes; Autoimmune destruction of hemidesmosomes between basal cells and basement membrane

A

Pemphigus vulgaris; Bullous pemphigoid

257
Q

What is an eosinophilic metaplasia of thryoid follicle cells?

A

Hurthle cell change in Hashimoto thyroiditis

258
Q

What are the lab findings in osteoporosis?

A

normal

259
Q

Which CNS tumor metastasizes via CSF?

A

medulloblastoma (neuroectoderm–granular cells of cerebellum)

260
Q

Etiology of primary gout

A

idiopathic

261
Q

Desmin positive SKM cancer

A

Rhabdomyosarcoma

262
Q

Where does the substrate accumulation occur in Krabbe disease? Metachromatic leukodystrophy?

A

Krabbe = galactocerebroside in MO; Metachromatic = sulfatides in lysosomes

263
Q

Who gets the Rachitic rosary?

A

Rickett’s osteoid deposition in the costochondral jxn

264
Q

Why do you use vitamin A derivatives to treat acne?

A

it reduces keratin production