Derm - Bullous Disorders

Front 1

A specialized structure that promotes keratinocyte-keratinocyte adhesion.

Back 1

desmosome

Front 2

Seen as "spines" or "prickles" in histological section, particularly in the stratum spinosum

Back 2

desmosomes

Front 3

Increase in size and number as keratinocytes migrate upward

Back 3

desmosomes

Front 4

desmosomal cadherins

Back 4

Desmogleins 1 and 3
(calcium-dependent cell-cell adhesion molecules)

Front 5

cytoplasmic proteins that attach to intracellular keratin cytoskeleton filaments

Back 5

linking proteins

Front 6

disruption of desmosomes causes cells to round and separate, which is called what?

Back 6

acantholysis

Front 7

acantholysis results in blisters where?

Back 7

intra-epidermally

Front 8

alterations in desmosomes typically cause what type of bullae?

Back 8

flaccid bullae which easily rupture

Front 9

complexes w/ fine anchoring filaments spanning the lamina lucida to form the junction between the basal membrane of epidermal basal cells and lamina densa

Back 9

hemidesmosome

Front 10

the hemidesmosome contains antigens involved in which d/o?

Back 10

bullous pemphigoid

Front 11

bullous pemphigoid antigens are restricted to which type of epithelium?

Back 11

stratified squamous

Front 12

what are the bullous pemphigoid antigens?

Back 12

BPAg1/BP230
BPAg2/BP180/collagen XVII

Front 13

these span the lamina lucida to connect the basal keratinocyte plasma membrane to the lamina densa

Back 13

anchoring filaments - contain transmembrane portions of BPAg2

Front 14

the weakest portion of the basement membrane

Back 14

lamina lucida

Front 15

the salt split skin test used for IF studies splits where?

Back 15

lamina lucida

Front 16

the basement membrane proper

Back 16

lamina densa

Front 17

the major structural component of all basement membranes is which collagen?

Back 17

collagen type IV

Front 18

the dermal component of the basement membrane zone; contains anchoring fibrils and anchoring plaques

Back 18

sublamina densa

Front 19

disruption of the basement membrane zone causes a split where?

Back 19

at the DEJ - results in subepidermal blisters

Front 20

subepidermal blisters are caused by a split where?

Back 20

at the DEJ - due to disruption of the basement membrane zone

Front 21

alterations in the basement membrane zone typically causes what type of bullae?

Back 21

tense bullae

Front 22

pemphigus vulgaris chiefly affects those of what age?

Back 22

middle-age

Front 23

pemphigus vulgaris is more common among which racial groups?

Back 23

Ashkenazi Jews and those of Mediterranean descent

Front 24

what is the prognosis for untreated pemphigus vulgaris?

Back 24

90% mortality

Front 25

acantholysis and intraepidermal blisters occur in any stratified epithelium, with sparing of the dermis

Back 25

acantholysis

Front 26

drugs that may cause pemphigus

Back 26

penicillamine and captopril

Front 27

flaccid bullae which rupture easily, appear on nonerythematous, normal-appearing skin and mucous membranes

Back 27

pemphigus vulgaris

Front 28

is the Nikolsky's sign positive or negative with pemphigus vulgaris?

Back 28

positive

Front 29

50-75% of pemphigus vulgaris cases begin where?

Back 29

oral mucosa

Front 30

do the blisters of pemphigus vulgaris scar?

Back 30

no, but they sometimes leave behind areas of hyperpigmentation

Front 31

intraepidermal blisters, a "tombstone" basal cell layer, and acantholysis

Back 31

pemphigus

Front 32

IgG (all four subclasses) and occasionally C3 deposition is seen in the intercellular space in a "chicken wire" pattern by DIF on perilesional skin

Back 32

pemphigus

Front 33

pemphigus vulgaris is caused by which auto-antibodies?

Back 33

IgG against desmoglein 1 and 3

Front 34

do circulating anti-epithelium antibodies correlate with disease activity in pemphigus vulgaris?

Back 34

yes, often.

Front 35

Pemphigus variation with very superficial bullae, which enlarge to produce extensive areas of moist, red, edematous, exfoliated, heaped-up skin. Oral mucosa is rarely involved. More benign course than pemphigus vulgaris.

Back 35

Pemphigus foliaceus

Front 36

Severe mucosal disease with polymorphous eruption of the trunk associated with lymphoproliferative disease, including NHL and CLL

Back 36

Paraneoplastic pemphigus

Front 37

Tx for pemphigus vulgaris

Back 37

High-dose prednisone for 6-weeks, followed by steroid-sparing immunosuppressive (mycophenolate mofetil, azathioprine, cyclophosphamide) until clinical disease is suppressed and antibody is undetectable in serum

Front 38

Which is more common, pemphigus vulgaris or bullous pemphigoid?

Back 38

bullous pemphigoid is twice as common as pemphigus vulgaris

Front 39

What is the prognosis of untreated bullous pemphigoid?

Back 39

relatively benign - usually clears in 5-6 years

Front 40

Bullous pemphigoid primarily affects those of which age group?

Back 40

80% are over 60

Front 41

bullous pemphigoid is associated with which ethnicities?

Back 41

no racial predilection

Front 42

bullous pemphigoid is more common in which sex?

Back 42

equal sex distribution if > 60
female predominance < 60

Front 43

subepidermal blistering in bullous pemphigoid is initiated by antibodies against what?

Back 43

BPAg2 and BPAg1

Front 44

what is seen on EM in bullous pemphigoid?

Back 44

IgG and complement deposits in lamina lucida, concentrated near hemidesmosomes

Front 45

bullous pemphigoid blister formation also involves what immune mechanism?

Back 45

complement activation

Front 46

large, tense bullae on erythematous or normal-looking skin

Back 46

bullous pemphigoid

Front 47

are blisters in bullous pemphigoid painful?

Back 47

no - they are not painful and do not readily break or extend with pressure

Front 48

is the Nikolsky's sign positive or negative in bullous pemphigoid?

Back 48

negative

Front 49

bullous pemphigoid tends to affect which areas of the body?

Back 49

groin, axillae, trunk, thighs, and flexor forearms

Front 50

possible early findings in bullous pemphigoid

Back 50

urticarial or other polymorphic eruptions w/ prominent pruritis

Front 51

does bullous pemphigoid involve oral mucosa?

Back 51

rarely - only in about 20% of cases

Front 52

subepidermal bullae with no acantholysis and prominent eosinophils

Back 52

bullous pemphigoid

Front 53

DIF shows what in bullous pemphigoid?

Back 53

C3 +/- IgG linear staining at the basement membrane (nearly 100% positive)

Front 54

do anti-basement membrane antibody titers correlate with disease activity in bullous pemphigoid?

Back 54

80-90% of patients with bullous pemphigoid have serum anti-BM antibodies, but titers do not correlate well with disease activity

Front 55

treatment for bullous pemphigoid

Back 55

Prednisone for 1-2 weeks until blisters heal. Immunosuppressives (mycophenolate mofetil, azathioprine, MTX) often combined.

Front 56

Heterogenous group of genetic disorders characterized by blistering at sites of incidental trauma. Often increased blistering w/ increased ambient temperature.

Back 56

epidermolysis bullosa

Front 57

What is the prognosis of epidermolysis bullosa?

Back 57

variable - may be mild or severe

Front 58

3 types of epidermolysis bullosa

Back 58

epidermolysis bullosa simplex
junctional epidermolysis bullosa
epidermolysis bullosa dystrophica

Front 59

epidermolysis bullosa with intraepidermal seperation, AD inheritance, and a defect in keratin 5 or 14

Back 59

epidermolysis bullosa simplex

Front 60

epidermolysis bullosa with seperation at the DEJ, AR inheritance, and abnormal structure of hemidesmosomes or anchoring filaments

Back 60

junctional epidermolysis bullosa

Front 61

epidermolysis bullosa with separation within the sub-lamina densa, AR or AD inheritance, due to mutations in type VII collagen

Back 61

epidermolysis bullosa dystrophica

Front 62

May present as generalized blisters early in life, or localized blisters (primarily hands and feet) later in life. No scarring unless secondary infection supervenes. Worse in summer.

Back 62

epidermolysis bullosa simplex

Front 63

Generally begins at birth. Scarring generally does not occur, but atropy may develop in affected areas. Some kindreds have normal life expectancy, others have more severe form and die before age 2. The esophagus or trachea can be involved in severe cases.

Back 63

recessive junctional epidermolysis bullosa

Front 64

The recessive form is almost always severe, with onset at birth. Blisters mainly on extremities. Heals w/ atrophic scars and milia; nail dystrophy. Digital fusion or "mitten" hand deformity with flexural contractures may be seen. Esophageal, conjunctival involvement and anemia and growth retardation seen in many patients. Predisposition to cutaneous squamous cell carcinoma and early death.

Back 64

dystrophic epidermolysis bullosa

Front 65

treatment for epidermolysis bullosa

Back 65

primarily supportive - antibiotics as necessary, surgical procedures (esophageal dilatation or "degloving" of mitten deformities,) good dental care if oral involvement present, nutritional support (iron, protein) if indicated.