B-30/31/32 Pemphigus/dh/labd

Front 1

Ab in ocular cicatricial pemphigoid

Back 1

beta-4-integrin

Front 2

Ab in cicatricial pemphigoid assoc with malignancy

Back 2

Laminin 5

Front 3

Ab in bullous pemphigoid

Back 3

BPAg1

Front 4

Ab in H. gestationis & bullous pemphigoid

Back 4

BPAg2-NC16A

Front 5

EB Simplex w/ muscular dystrophy has what mutation?

Back 5

plectin

Front 6

Differences in pustules for erythema toxicum neonatorum, acropustulosis of infancy, and transient neonatal pustular melanosis?

Back 6

ETN = appear w/in 48 hours = numerous EOS
Acropustulosis = 3-4months = neutrophils
Transient Neonatal pustular melanosis = sterile subcorneal pustules

Front 7

Eponym and defect for Congenital erythropoietic porphyria

Back 7

Gunther's disease
Defect: uroporphyrinogen synthetase II
(converts hydroxymethylbilane to uroporphyriogen III)
Red teeth & immediate photosensitivity during infancy

Front 8

MW of Desmoglein 3?

Back 8

130kDa

Front 9

MW of Desmoglein 1?

Back 9

160 kDa

Front 10

MW of Plectin

Back 10

500 kDa

Front 11

MW of Desmoplakin I ?

Back 11

250 kDa

Front 12

MW of Desmoplakin II ?

Back 12

210 kDa

Front 13

MW of BPAg1?

Back 13

230 kDa

Front 14

MW of Envoplakin?

Back 14

210 kDa

Front 15

MW of Periplakin?

Back 15

190 kDa

Front 16

MW of Desmocollin 1?

Back 16

110/100 kDa

Front 17

Chronic bullous dz of childhood is believed to be a variant of what?

Back 17

Linear IgA bullous disease
(ab to 97kDa antigen that is part of BPAg2)

Front 18

Herpes gestationis is assoc with what other diseases?

Back 18

Grave's Dz & choriocarcinoma
Recurs with successive pregnancies

Front 19

What is defective in junctional EB?

Back 19

Laminin 5

Front 20

What is defective in junctional EB w/ pyloric atresia?

Back 20

alpha-6-beta-integrin

Front 21

Antigen in Linear IgA?

Back 21

97kDa part of BPAg2

Front 22

BPAG2 is aka?

Back 22

Collagen XVII (17)
BP180

Front 23

What is the antigen in EBA?

Back 23

autoantigen is type VII collagen which is an ANCHORING FIBRIL in the sublamina densa
-- bottom half of the salt split skin

Front 24

EBA has what antibodies? salt-split abs? DIF?

Back 24

Type VII collagen
sub-epidermal blister (pauci-inflammatory)
DIF shows linear IgG at the basement membrane
Salt-split skin shows antibodies at the floor

Front 25

What is endemic PF called and what is the vector?

Back 25

Fogo Selvagem, Black Fly (Simulium pruinosum)
>50% with anti Dsg1 Ab

Front 26

What are Cadherins?

Back 26

Ca2+ dependent cell to cell adhesion molecules; formation and maintenance of tissue integrity

Front 27

Compare and contrast Adherens Junction vs Desmosomes

Back 27

Adherens junction: anchor actin filaments, quick/weak adhesion, made of classic cadherins (alpha and beta catenin), has plakoglobin

Desmosomes anchor keratin filaments, slow/strong adhesion, have desmosomal cadherins, and include plakophilin/desmplakin/plakoglobin

Front 28

Name the proteins in the armadillo family

Back 28

Plakoglobin
Plakophilin
B-catenin

Front 29

Name the members of the Plakin Family

Back 29

Desmoplakin I (250kD)
Desmoplakin II (210 kD)
Periplakin (190kD)
Envoplain (210kD)
BPAg1 (230 kD)
Plectin (500kD)

Front 30

What is the DIF pattern in PV?

Back 30

Intercellular IgG
"Chicken-wire fence"
(similar in PF, Pemphigus erythematosus, P vegetans)

Front 31

What is the Indirect IF for PV?

Back 31

Anti-Dsg 3 only in lower epidermis
- Monkey esophagus

Front 32

What is the substrate for indirect IF for Pemphigus foliaceous?

Back 32

Guinea Pig esophagus

Front 33

Eponym for Pemphigus Erythematosus

Back 33

Senear-Usher Syndrome
(localized variant of PF)

Front 34

What is Most Common malignancy associated with Paraneoplastic Pemphigus?

Back 34

Non-Hodgkin's Lymphoma (42%)
CLL (29%)
Castleman's Disease (10%)
-- this is the most common associated tumor in children, adolescents
Thymomas, spindle cell CA, Waldenstrom's (6% each)

Front 35

What is the most common clinical feature of paraneoplastic pemphigus?

Back 35

intractable stomatitis

Front 36

What is the DIF pattern in IgA pemphigus?

Back 36

IgA deposition on keratinocyte surfaces
SPD: upper epidermal surfaces (IgA1 Ab recognize desmocollin1 - 110kDa)
IEN: throughout epidermis -- target is IgA autoab to DSG1 and 3

Front 37

What lab test is useful for monitoring disease in pemphigus?

Back 37

ELISA (parallels disease activity)

Front 38

What is the gold standard for dx of pemphigus?

Back 38

demonstration of IgG autoAb against keratinocyte cell surface

Front 39

What substrate is used for indirect IF for PNP?

Back 39

rat bladder (specifically anti plakin ab)

Front 40

What is the autoantigen in DH?

Back 40

Epidermal transglutaminase (TGM3)

Front 41

What antibodies correlate with degree of gluten-sensitive enteropathy?

Back 41

Anti-endomysial IgA antibody (tissue transglutaminase)

Front 42

What is the most common autoimmune thyroid disease associated with DH?

Back 42

- Hashimoto's thyroiditis (~50%)
- followed by lymphoma (enteropathy-associated T-cell non-Hodgkin's lymphoma)
- IDDM

Front 43

What is recommended treatments for DH? Which one lowers risk of lymphoma?

Back 43

Gluten-free diet lowers risk of lymphoma (rice, corn, oats OK)
Dapsone helps, but does not improve intestinal pathology or decrease risk of small bowel lymphoma.

Front 44

What HLA types are associated with BP?

Back 44

Caucasians: HLA DQB1*0301
Japanese: DRB1*04, DRB1*1101, DQB1*0302

Front 45

What is the most common autoimmune blistering disease?

Back 45

Bullous Pemphigoid

Front 46

What are the targets of the autoAb in BP?

Back 46

BP antigen 1 (BPAG1): 230 kD
BP antigen 2 (BPAG2, type XVII collagen): 180 kD
-- Almost all have autoab to BP180 (NC16A domain)

Front 47

What is the autoAb in Gestational Pemphigoid?

Back 47

autoAb agst BP180 (NC16A region)
aka pemphigoid gestationis, herpes gestationis
(Variant of BP)

Front 48

Is there an increased risk of prematurity with H gestationis?

Back 48

Yes!
Rash begins in 2nd-3rd trimester, uncommon after delivery, resolves spontaneously.

Front 49

What is the associated HLA with H. gestationis?

Back 49

HLA-DR3 or DR4

Front 50

What are the causes of drug induced BP?

Back 50

DAMP Napkin:
D actinomycin/Diuretics (Lasix/aldosterone antagonist)
Amoxicillin/Analgesics (Phenacetin)
MTX
Peniciliamine/Potassium Iodide
Neuroleptics
Also: Gold, captopril

Front 51

What is the DIF in BP?

Back 51

fine linear IgG or C3 along BM

Front 52

What AutoAb correlates with disease severity in BP?

Back 52

Serum IgG and IgE autoAb to BP180 correlates with disease severity

Front 53

What HLA is associated with Cicatricial Pemphigoid (aka Benign Mucous Membrane Pemphigoid, ocular pemphigus, scarring pemphigoid)?

Back 53

HLA DQw7

Front 54

What is the DIF pattern in cicatricial pemphigoid?

Back 54

continuous linear IgG +/- C3 along BMZ (perilesional bx); high titers of IgG in patients with worse disease

Front 55

What is the indirect IF seen in cicatricial pemphigoid?

Back 55

most Ab that bind to roof; antilaminin 5 binds to floor

Front 56

What is the Ab in EBA?

Back 56

IgG Ab to NC1 domain (145kDa) of type VII collagen (anchoring fiBrils);

Front 57

What HLA is associated with EBA?

Back 57

Korean: DRB1*13
Caucasians, AA: DRB1*1501, DR5

Front 58

What is the most common systemic association with EBA?

Back 58

IBD: most frequent association with Crohn's disease
Others: Myeloma, SLE, RA, thyroiditis, DM

Front 59

What is DIF in EBA?

Back 59

Linear band along BMZ (IgG)
SSS: dermal side (floor) of split
EM: cleavage in sublamina densa