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Boards 23' > Dermatology > Flashcards

Dermatology Flashcards

1
Q

the 3 layers of the skin

A

epidermis - keratinocytes
dermis - CT and vessels
subcutaneous fat also called hypodermis

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2
Q

the 5 layers of the epidermis

A

“Come Let’s Get Sun Burned”
straum corneum
stratum lucidum
stratum granulosum
stratum spinosum
stratum basale - contain stem cells

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3
Q

stratum basale contain which type of cells

A

stem cells - capable of regenerating the epithelial cells

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4
Q

stratum spinosum

A

contains desmosomes - forms the spines in cells

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5
Q

Stratum granulosum

A

keratohyalin granules (causes this layer to be dark) that form keratin filaments

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6
Q

stratum lucidum

A

clear layer of dead skin cells

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7
Q

stratum corneum

A

contain anucleated cells filled with keratin filaments (tough outer layer of the skin)

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8
Q

processes that tend to cause leaky vessels affect what layer of the skin?

A

the dermis - where CT and blood vessels are located

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9
Q

Hyperkeratosis

A

thickening of the stratum corneum due to an excess of keratin

Occurs in:
Psorisas - plaque build up
Calluses on palms and soles of feet

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10
Q
A

Hyperkeratosis - thickening of the stratum corneum due to an excess of keratin

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11
Q
A

Psorisas - Hyperkeratosis - thickening of the stratum corneum due to an excess of keratin

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12
Q
A

Parakeratosis - hyperkeratosis + RETAINED NUCLEI in the stratum corneum; indicates hyperproliferation

Occurs in:
psoriasis
malignancies

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13
Q

Parakeratosis

A

hyperkeratosis + RETAINED NUCLEI in the stratum corneum; indicates hyperproliferation

Occurs in:
psoriasis
malignancies

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14
Q

Hypergranulosis is a classic feature seen in which skin pathology?

A

lichen planus

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15
Q

Hypergranulosis

A

increased thickening of the stratum granulosum; classic finding in lichen planus

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16
Q
A

Spongiosis - fluid accumulation (edema) of the epidermis; seen in eczema and many other skin disorders

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17
Q

Spongiosis

A

fluid accumulation (edema) of the epidermis; seen in eczema and many other skin disorders

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18
Q

Acantholysis

A

loss of connections between keratinocytes - often loss of desmosomes; “rounded” keratinocytes that are detached, floating freely in the epidermis

key feature in - pemphigus vulgaris

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19
Q

Acantholysis is a ket feature in which skin pathology?

A

pemphigus vulgaris

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20
Q
A

Acantholysis - loss of connections between keratinocytes - often loss of desmosomes; “rounded” keratinocytes that are detached, floating freely in the epidermis - can lead to the formation of a blister

key feature in - pemphigus vulgaris

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21
Q

Acanthosis

A

diffuse epidermal hyperplasia - elongated rete ridges and **SPINOUS layer thickening

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22
Q

Which layer of the epidermis thickens to form elongated rete ridges in acanthosis?

A

stratum spinosum

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23
Q

Acanthosis Nigricans

A

darkened/hyperpigmented plaques on skin in skin folds (classically the neck and axillae); hyperkeratosis is present - associated with insulin resistance and very rarely associated with malignancy (gastric adenocarcinoma)

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24
Q

macula

A

flat lesion that is <1 cm (m=mini)
ex: freckles - increased amount of melanin

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25
Q

patch

A

flat lesion that is >1 cm
ex: stork bite birthmark

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26
Q
A

a mole/nevus - an example of a papule - raised lesion that is < 1 cm

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27
Q

papule

A

a raised lesion that is < 1 cm
ex: a mole/nevus

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28
Q
A

a plaque - a raised lesion that is > 1 cm (psoriasis)

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29
Q

plaque

A

a raise lesion that is > 1 cm

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30
Q

maculopapular rash

A

mixtures of flat (macules) and raised (papules) small lesions - “morbilliform” - looks like measles

Common in:
Drug rash, scarlet fever, syphillis and rubella

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31
Q

vesicle

A

fluid filled lesion that is < 1 cm
ex: chickenpox

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32
Q

bulla

A

fluid filled lesion that is > 1 cm
ex: bullous pemphigoid

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33
Q

pustule

A

fluid filled variant that is filled with purulent “pus-filled vesicle” - has white center

Ex: pustular psoriasis or acne

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34
Q
A

acne - an example of an pustule - fluid filled variant that is filled with purulent “pus-filled vesicle” - has white center

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35
Q

Wheal

A

**SMOOTH, elevated papule or plaque; surrounded by erythema (redness); **ITCHY - caused by dermal edema

component of urticaria (hives) - allergic reaction

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36
Q

Scale

A

secondary lesion that is caused by peeling/flaking of the stratum corneum

commonly seen in psoriasis

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37
Q
A

Wheal a **SMOOTH, elevated papule or plaque; surrounded by erythema (redness); **ITCHY - caused by dermal edema

component of urticaria (hives) - allergic reaction

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38
Q

Crust

A

secondary skin lesion caused by *dried exudate of a primary skin lesion

ex: Impetigo

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39
Q
A

Wheal a **SMOOTH, elevated papule or plaque; surrounded by erythema (redness); **ITCHY - caused by dermal edema

component of urticaria (hives) - allergic reaction

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40
Q

These itchy, erythematous, scaly plaques on the extensors of the knees will have which characteristic feature on histology?

A

Acanthosis - diffuse epidermal hyperplasia with thickening of the stratum spinosum and elongated rete ridges as seen in this pt w/ plaque psoriasis

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41
Q

the type of collagen in the basement membrane?

A

type IV collagen - Goodpasture’s and Alport syndrome

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42
Q

Tight Junctions

A

seals two cell membranes together - functions as a barrier to paracellular movement - found near apical membrane - proteins occluding and claudin

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43
Q

Adherens Junctions

A

found below tight junctions - anchors cells to one another; form belt around cells - major protein **cadherins (link actin filaments)

E-caherins is lost in some forms of breast cancer

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44
Q

Desmosomes

A

“spots” of cell-cell attachments (not belts); common in skin - attach to intermediate filaments made upon keratin

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45
Q

Hemidesmosomes

A

similar to desmosomes - attach epithelial to basement membranes - linked by integrins

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46
Q

Gap Junctions

A

channel connections using connexions - allow small molecules to pass

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47
Q

Acne

A

inflammation of hair follicles and sebaceous glands (enlarge at puberty); exocrine glands in the dermis that secrete sebum (gives oily texture to skin); androgens increase sebum production (men w/ lots of acne at puberty)

Sebum = optimal growth medium for bacteria = **Propionibacterium acnes

*Comedones allow bacterial growth

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48
Q

Acne Treatment

A

benzoyl peroxide - breaks down keratin and is bactericidal to P. acnes

Antibiotics - clindamycin and erythromycin

Retinoids (Vitamin A derivatives)

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49
Q

Isotretinoin

A

Accutane (13 cis-retinoic acid) - a version of Vitamin A used in acne treatment - decreases keratin production; it is HIGHLY teratogenic (need to take OCP and take a pregnancy test prior)

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50
Q

Seborrheic dermatitis

A

red plaques with scale (flaky skin) occurs on the face and scalp; associated with fungal infection by Malassezia

tx: antifungals and corticosteroids

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51
Q

melanocytes nevus

A

moles - benign neoplasm of melanocytes - tan/brown lesions with a uniform color; usually round or oval and less than 6mm

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52
Q

Pseudofolliculitis barba

A

Razor bumps or shave bumps

inflammation of trapped hairs; associated w shaving; common in black men

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53
Q

Psoriasis

A

autoimmune chronic inflammatory skin disorder with well-demarcated plaques on extensor surfaces; usually described pink or salmon color; strongly associated w/ HLA-C allele

Findings:
Acanthosis
Parakeratotic scaling (retained nuclei)
Stratum granulosum - thinned or absent
Auspitz sign - scale breaks and causes bleeding (due to dermis being close to the surface of the skin)

Other findings:
nail pitting
1/3rd develop psoriatic arthritis

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54
Q

Auspitz sign

A

classic sign seen in psoriasis when a scale breaks and there is bleeding due to the dermis being close to the surface of the skin

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55
Q
A

nail pitting seen in psoriasis

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56
Q

Rosacea

A

inflammatory skin disorder that affects light-skinned pts (older/elderly); chronic redness of nose and cheeks; look similar to acne but no comedones
Other features:
facial flushing (triggered by alcohol) and phymatous rosacea (skin hypertrophy)

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57
Q
A

Rosacea - inflammatory skin disorder that affects light-skinned pts (older/elderly); chronic redness of nose and cheeks; look similar to acne but no comedones

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58
Q
A

phymatous rosacea - skin hypertrophy (thickened skin) commonly located on the nose - seen in pts with Rosacea

59
Q

Seborrheic keratosis

A

common benign tumors due to the proliferation of **immature keratinocytes - occurs in older patients (trunk area) and arise spontaneously

appear “stuck on”
in biopsy you will see “horn cyst” cyst filled with keratin

60
Q
A

“horn cyst” cyst filled with keratin as seen in Seborrheic keratosis

61
Q

Leser-Trelat-Sign

A

“explosive onset” of multiple itchy Seborrheic keratosis (SK) lesions; probably caused by cytokines - associated w/ malignancy (gastric adenocarcinoma)

62
Q

an explosive one of Seborrheic keratosis around the trunk area, what you do next in this pt?

A

look for evidence of gastric adenocarcinoma - this the Leser-Trelat-Sign

63
Q

Verrucae

A

warts - cellular proliferation triggered by HPV

64
Q

Koilocytosis

A

cytoplasmic clearing “halos” around the nucleus - characteristic feature of infection with HPV

65
Q
A

Koilocytosis - cytoplasmic clearing “halos” around the nucleus - characteristic feature of infection with HPV

66
Q

Verruca Vulgaris

A

verruca = warts and vulgaris = common
Cutaneous warts - most common manifestation of HPV infection, transmitted by contact with virus (hands) - will see epidermal hyperplasia and koilocytosis on histology

67
Q

Erythema Nodosum

A

painful red nodules on the skin (shin); type IV hypersensitivity rxn; a form of panniculitis (inflammation of subcutaneous fat)

Findings:
Septal panniculitis

Triggers:
Infection (Strep)
Crohn’s
Sarcoidoisis

68
Q
A

Septal panniculitis - inflammation of the septa of fat between dermis and fascia - a finding in erythema nodosum

69
Q

Lichen Planus

A

chronic inflammatory skin disorder that occurs in adults and resolves spontaneously; associated w/ Hep C
Purple papules and plaques that are ITCHY - common in the wrists and ankles b/l

Clues:
mucosal involvement - mouth, tongue, glans penis “wicked striae” - white dots/lines hypergranulosis of oral lesions

Histology: “sawtooth” pattern of rete ridges

70
Q

Sawtooth pattern of the rete ridges

A

lichen planus

71
Q

Pityriasis Rosea

A

acute, self-limited skin rash that occurs as an eruption of lesions that resolves within 2-3 months, no tx req - cause is unknown

Skin finding “Herald patch” w/ a “Christmas tree distribution”

72
Q

pt who has a herald patch that is followed by rashes on the back in a Christmas tree pattern, what should you suspect and how should you tx?

A

Pityriasis Rosea - self-limited skin rash that resolves within 2-3 months, no tx req

73
Q

Superficial Burn

A

1sr degree burn - epidermis only; painful, red and blanch w/ pressure (looks like sunburn); no blistering - heals w/i 7 days; there is minimal tx required

74
Q

Superficial partial thickness burn

A

2nd degree burn - epidermis and some dermis - often forms blisters; red and painful - blanch w/ pressure; heals 7-21 days

75
Q

Deep Partial Thickness Burn

A

2nd degree burn - epidermis and most of dermis - erythematous and often yellow/white; almost ALWAYS blister - easily unroofed (tissues moves) - painful to pressure ONLY and do NOT blanch; long time to heal >21days - forms a scar

76
Q

Full thickness burn

A

4th degree burn - entire epidermis and dermis and some underlying tissue (fat, fascia or muscle); it is PAINLESS; scarring w/ wound contracture

77
Q

Sunburn

A

DELAYED inflammatory response to skin in respite to UVR **UVB range is the most damaging to our skin

UV radiation - DNA damage - apoptosis
“sunburn cells” - keratinocytes undergoing apoptosis

78
Q

Melanin

A

black/brown pigment that gives color to skin and hair; synthesized by melanocytes (derived from neural crest cells - same as neural ganglia and adrenal medulla); found in basal layer of epidermis;

79
Q

Albinism

A

AR disorder where there is absent/reduced melanin synthesize due to decreased tyrosinase activity (converts tyrosine to DOPA quinone then gets converted to melanin): NOTE - the # of melanocytes are NORMAL

Increased risk for sunburns and skin cancer due to lack of UV light protection

80
Q

Melasma

A

ACQUIRED hyperpigmentation (think opposite of albinism) - irregular areas of tan/dark macules on face - most common in women w/ dark complexions in sun-exposed areas of the face

Triggers:
UV light w/ an onset of pregnancy and OCP - commonly called the “mask of pregnancy” and resolves after pregnancy

81
Q

Vitiligo

A

acquired localized pigment disorder (pts are asymptomatic) - autoimmune destruction of melanocytes - tx w/ steroids and immunosuppressants

82
Q

pt goes to the beach and comes back and notices that they are suntanned over their entire body except in a couple of localized regions, what skin disorder should you suspect?

A

Vitiligo - in light skinned individuals there is failure to tan in localized regions

in dark-skinned pts there are obvious areas of depigmentation

83
Q
A

Vitiligo - autoimmune destruction of melanocytes - tx w/ steroids and immunosuppressants - associated w/ autoimmune thyroid disease

84
Q

Blood Blister

A

traumatic bleeding in dermis - the epidermis is intact

85
Q

Angiosarcomas

A

rare tumor of blood or lymph vessels
sarcoma = mesenchyme origin
angio = blood vessel

usually in the head and neck and arise from the dermis layer

occur in the liver after exposure to vinyl chloride and in the breast after radiation therapy

86
Q

Bacillary Angiomatosis

A

Zoonotic infection by Bartonella (lice or cats) - usually in end stage HIV and AIDs pt - eruption of red/purple nodules

would see neutrophils/lymphocytes on biopsy

87
Q

Kaposi Sarcoma

A

Caused by the (Human Herpesvirus-8) HHV-8; common in AID/HIV pts - key difference from Bacillary Angiomatosis is you will only see lymphocytes on biopsy (no neutrophils)

88
Q

Pyogenic Granuloma

A

benign vascular tumor - blood vessel hyperplasia due to *growth stimuli (classically pregnancy and trauma); often bleed profusely - surgically removed

89
Q

Cherry Hemangioma

A

benign capillary proliferations common in middle-ages or elderly; classically on trunk - develop w/ aging; may bleed from trauma

90
Q

Cystic Hygroma

A

congenital malformation in newborns; large cyst containing *lymph (obstruction of lymph drainage) - classically develops on the neck

often identified on prenatal ultrasound
increased risk of Trisomy 21 and Turner syndrome

91
Q

Glomus Tumor

A

structure in the dermis of the skin (fingers and toes) - modified smooth muscle cells that function to regulate skin temperature (shunts blood awareness from surface in cold)

pink/purple papule or nodule that are PAINFUL esp when exposed to cold

92
Q

Strawberry Hemangioma

A

benign hemangioma - excess proliferation of blood vessels - appear in newborns - typically a single lesions involute within a few years

93
Q

Nevus Simplex

A

Stroke bite/ Salmon Patch “birthmark”
capillary malformation (not a tumor)
pink-red macule - fades in first few years of life

94
Q

Nevus Flammeus

A

Port Wine Stain
malformation of dermal capillaries and venules - there is slow blood flow; causes pink/red patches often unilateral - blanch when press - do NOT regress (grows as child grows)

can have Sturge-Weber syndrome

95
Q

Impetigo

A

superficial skin infection - neutrophils collect beneath the stratum corneum - leads to “honey-colored” crust lesion

HIGHLY CONTAGIOUS!
Strep aureus or Strep pyogenes

96
Q

Bullous Impetigo

A

form of impetigo that forms a bulbous - seen in children and commonly involves the trunk - ALWAYS caused by Strep aureus (never Strep pyogenes)

Strep aureus Exfoliative Toxin cleaves *desmoglein 1 complex - affects the stratum granulosum - leads to bullous impetigo

97
Q

Pathology of Bullous Impetigo formation

A

Caused by Strep aureus Exfoliative Toxin (exfolatin) cleaves *desmoglein 1 complex (desmosomes) - affects the stratum granulosum - leads to bullous impetigo

98
Q

Scalded Skin Syndrome

A

newborn disease caused by the colonization of S. aureus - diffuse exfoliative toxin - sloughing off skin “Nikolsky’s sign” - skin slips off with gentle tug

heals completely with no scar
tx: antibiotics

99
Q

Erysipelas

A

infection of the superficial dermis - occurs in young children and older adults - caused by Strep pyogenes

Acute onset - fever, chills, rash (clear demarcation of rash and normal skin)

100
Q

Cellulitis

A

infection of deep dermis and subcutaneous fat; elderly - caused by Strep pyogenes and Strep aureus

Slow onset - focal pain, rash with warmth over days - spreading border

101
Q

Skin abscess

A

collection of pus - walled off in dermis or subcutaneous space - complication of cellulitis or erysipelas

102
Q

Necrotizing fasciitis

A

infection of fascia - involves muscle fascia and subcutaneous fat; skin goes through many color changes (red/purple/blue/gray/black); pain and tenderness may be “out of proportion to exam” minor rash with extreme tenderness - pt often mistake for muscle injury

often fulminant and deadly (uncontrolled spread) - requires urgent surgical debridement

crepitus can occur (crackling sound when skin is pressed)

103
Q

Necrotizing Fasciitis type I

A

polymicrobial - often anaerobes (Bacteroides, Clostridium etc) and Strep or Staph - occurs in pts who have poor blood flow to skin such as diabetics, immunocompromised, vascular disease

Usually occurs following surgery

104
Q

Necrotizing Fasciitis type I

A

occurs in healthy ppl after skin injury (fall) and caused by Strep pyogenes

watch for pain out of proportion (may also have fever and hypotension)

105
Q

Pemphigus

A

Blisters
hallmark = acantholysis (loss of connection between keratinocytes); involves mucus membranes (mouth) and skin

106
Q

pemphigus vulgaris

A

most common form of blistering
autoantibodies against desmoglein (component of desmosomes); disrupts connections in the stratum spinosum

large *flaccid bull that easily burst (not tense) - most rupture and scabbed; often presents first w/ oral bull and ulcerations (may present w/ painful chewing or swallowing)

107
Q

(+) immunofluorescence for IgG in a “reticular” pattern like a net is a classic finding in which skin pathology?

A

pemphigus vulgaris - autoantibodies against desmoglein (component of desmosomes); disrupts connections in the stratum spinosum

with this finding there is increased mortality - infections and side effects to Rx

108
Q

Bullous pemphigoid

A

looks like pemphigus
autoantibodies against *hemidesmosomes (epithelial cells to basement membranes); bull are subepidermal and nonacantholytic - biopsy will show eosinophils and lymphocytes - immunofluorescence shows a line at base of epidermis

elderly (80 yrs)

109
Q

Dermatitis Herpetiformis

A

“herpes-like” skin condition associated w/ celiac disease; pruritic and classically on extensors: elbows and knees

IgA deposition in the dermal papillae

Celiacs: small bowel intraepithelial lymphocytosis, crypt hyperplasia and progressive villous atrophy

110
Q

urticaria

A

“hives” type 1 hypersensitivity reaction caused by IgE-dependent mast cell degranulation leading to histamine release - there are no changes in the epidermis but dermal edema is present.

111
Q

Atopic Dermatitis

A

Eczema - chronic disorder with flares and remission - a hypersensitivity; usually occurs in children and presents as red itchy rash on the skin

Increased serum IgE, family hx; occurs w/ allergic rhinitis and asthma

**Filaggrin -protein in stratum corneum (pts w/ this deficieny air at increased risk to develop eczema)

112
Q

Contact Dermatitis

A

type IV hypersensitivity - localized area skin w/ contact to allergen

Common causes: poison ivy, Nickel (jewelry) and laundry detergents

113
Q

Drug Rash

A

“non-immediate” reaction to drug days to weeks after starting drug - type IV hypersensitivity; often w/ some penicillin antibiotics

114
Q

Steven-Johnson Syndrome

A

severe skin reaction; type IV hypersensitivity - usually triggered by drugs

Hallmark = necrosis of the epidermis
Nikolsky sign = skin slips off w/ simple tug

Typical presentation: prodrome 1-3 days before skin findings w/ fever and flu-like symptoms then lesions start on face/chest and spread symmetrically- red and tender skin, progresses to vesicles/bullae and then skin starts to slough off

115
Q

pt presents w/ prodrome 1-3 days before skin findings w/ fever and flu-like symptoms then lesions start on face/chest and spread symmetrically- red and tender skin, progresses to vesicles/bullae and then skin starts to slough off

A

Steven-Johnson Syndrome; severe skin reaction; type IV hypersensitivity - usually triggered by drugs

116
Q

Erythema multiform

A

skin disorder that is associated w/ infections; most common is Herpes simplex virus (children - mycoplasma pneumoniae); thought to be cell-mediated type IV autoimmune reactions

hallmark = “target lesion”

117
Q

Actinic Keratosis

A

premalignant skin lesions caused by sun exposure - can lead to squamous cell carcinoma; round red/brown papules or plaques in sun exposed areas; biopsy - hyperkeratosis and epidermal cell dysplasia and parakeratosis (retained nuclei)

118
Q

Squamous Cell Carcinoma

A

2nd most common skin cancer; occurs in sun exposed areas (damage by UV light); rarely metastasize to regional nodes (usually benign); occurs in older pts

red and scaling plaques with sharp border and more advances lesions can crust and bleed

hallmark = keratin pearls

119
Q

Risk factors for Squamous Cell Carcinoma

A

Sun exposure
Chronic immunosuppression
Chronic skin inflammation
Arsenic exposure (contaminated water)

120
Q

Keratoacanthoma

A

variant of SCC that is usually benign and self-resolving “dome-shaped” nodule with central hyperkeratosis

Classic feature = rapid growth (weeks) and then regression

121
Q

Bowen’s Disease

A

squamous cell carcinoma in situ
well-demarcated scaly patch or plaque

122
Q

Basal cell carcinoma

A

most common skin cancer; slow growing and has the LOWEST potential for recurrence or metastases; grows in sun-exposed areas “pearly” papules or nodules and may have telangiectasia

hallmark = nests of “basaloid” dark cells in dermis and also will see palisading nuclei

123
Q

nests of “basaloid” dark cells in dermis

A

hallmark in Basal cell carcinoma

124
Q

Superficial basal cell carcinoma

A

special variant of BCC; lesions are red to pink plaques with a slight scale; mostly occurs on trunk

125
Q

Superficial basal cell carcinoma

A

special variant of BCC; lesions are red to pink plaques with a slight scale; mostly occurs on trunk

126
Q

Melanoma

A

highly malignant skin cancer ABCDE

127
Q

Lentigo maligna

A

type of melanoma that is confined to the epidermis (growing dark spot confined to the epidermis) - it is slow growing (takes years to develop); occurs in elderly

128
Q

Neurofibromatosis

A

AD neurocutaneous disorder of nerve tumors with skin and eye findings; mut in NF1/von Recklinghausen disease (most common) - tumor suppressor gene on chr 17 - leads to RAS overactivity - uncontrolled growth

129
Q

NF1/von Recklinghausen disease

A

the most common subtype of Neurofibromatosis; mut in NF1 (tumor suppressor gene) leads to RAS overactivity and uncontrolled growth; it is a nerve tumors with skin and eye (Lisch nodules) findings

Other features:
optic gliomas (by the age of 3yrs)
bone abnormalities
intellectual impairment

AD w/ 100% penetrance w/ *variable expressivity (variability in features)

130
Q

Brown spots on the iris

A

Lisch nodules - as seen in NF1/von Recklinghausen disease - will also see skin lesions

131
Q

Cafe-au-lait-spots “coffee with milk”

A

classic skin finding in NF1/von Recklinghausen disease - will also see eye involvement (Lisch nodules)

132
Q

3 yr old to w/ an optic glioma

A

one of the potential manifestations of NF1/von Recklinghausen disease - will also see eye involvement (Lisch nodules) and skin lesions - Cafe-au-lait-spots “coffee with milk”

133
Q

Neurofobromatosis 2

A

less common than NF1
AD NF2 mut - CNS tumors - *Bilateral schwannomas (acoustic neuromas - CN VIII); occurs in almost all pts

134
Q

Tuberous Sclerosis

A

familial cancer syndrome
hallmark = (TSC1) hamartomas and (TCS2) seizures

mut in mTOR - overactivity - unregulated cell growth

look for “ash leaf spots” pale hypopigmented lesions or “shagreen patches” and CNS tumors

135
Q

CNS tumors in Tuberous Sclerosis

A

cortical tubers (distorted cortex)

subependymal nodules (ependyma = lining of ventricles)

Subependymal giant cell astrocytomas - low grade astrocytomas that can obstruct ventricles and lead to hydrocephalus

136
Q

Rhabdomyomas in Tuberous Sclerosis

A

benign tumors of muscle cells; classic feature in Tuberous Sclerosis (90%) - they are embedded in the ventricular wall and can cause obstruction or arrhythmias

137
Q

Renal manifestations of Tuberous Sclerosis

A

Renal Angiomyolipomas is the most common; multiple or b/l growths of epithelioid cells around vessels that can cause *hemorrhage and pain; can lead to renin-dependent hypertension - risk of chronic kidney disease

138
Q

Classic case: young child/infant who develops seizures. On PE you find “ash-leaf spots” and angiofibromas, what should you suspect and what is associated with this disorder?

A

Tuberous Sclerosis - hamartomas

139
Q

Sturge-Weber Syndrome

A

vascular disorder of capillaries (not inherited) w/ 3 classic features:
1. port-wine stain on face (birthmark)
2. leptomeningeal angioma (brain tumor) *SAME SIDE as port-wine stain!
3. increased ocular pressure (glaucoma)

140
Q

3 classic features:
1. port-wine stain on face (birthmark)
2. leptomeningeal angioma (brain tumor) - seizures
3. increased ocular pressure (glaucoma)

A

Sturge-Weber Syndrome

141
Q

Sturge-Weber Syndrome Genetics

A

spontaneous GNAQ gene that occurs after fertilization (somatic mutation) and has features of mosaicism (some cells are normal/some mutated)

142
Q

von Hippel-Lindau Disease

A

genetic cancer syndrome (benign and malignant tumors) requires “two hits”

VHL gene mut on chr 3 (tumor suppressor) causes *ubiquitination of hypoxia-inducible factor (HIF) - cells response as though they are hypoxic and leads to blood vessel growth

MULTIPLE hemangioblastomas (benign and well-circumscribed but can compress structures and hemorrhage) in CNS

143
Q

phase of wound healing

A

keratinocytes are responsible for wound re-epithelization; they migrate into the wound from its edges and are repopulated by replication with the stratum basal; keratinocytes continue to migrate and proliferate until they contact other similar cells, a regulatory mechanism known as contact inhibition

144
Q

ecthyma gangrenosum

A

ecthyma gangrenosum is a cutaneous necrotic disease w a strong association w Pseudomonas aeruginosa bacterimia; it occurs from perivascular invasion and release of tissue-destructive exotoxins, causing vascular destruction and insufficient blood flow to patches of skin that become edematous and subsequently necrose

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