General

Question 0

Name the gene mutation in EHK

Answer 0

K1 & K10

Question 1

Name the pathological finding in ichthyosis vulgaris

Answer 1

Absent granular cell layer

Question 2

Name the gene for x-linked ichthyosis. Implication for pregnancy?

Answer 2

Steroid sulfatase; prolonged labor

Question 3

Gene for congenital ichthyosiform erythroderma?

Answer 3

Transglutaminase, ALOXE3

Question 4

Gene for harlequin ichthyosis

Answer 4

ABCA12

Question 5

Gene and eye finding in Sjogren-Larrson

Answer 5

FALDH; retinitis pigmentosa (glistening dot)

Question 6

Gene and mode of transmission for Conradi Hunnerman

Answer 6

Emopmil binding protein; XLD

Question 7

Bone finding in Conradi Hunnerman?

Answer 7

Stippled epiphyses

Question 8

Gene for Refsum?

Answer 8

PAHX; phytanoyl-CoA hydroxylase (increases phytanic acid)

Question 9

Gene for CHILD?

Answer 9

NSDHL

Question 10

Gene and hair finding for Netherton’s?

Answer 10

SPINK5, trichorrexis invaginata

Question 11

Name the major collagen in the dermis.

Answer 11

Collagen 1

Question 12

Innervation of the eccrine glands

Answer 12

Cholinergic

Question 13

Mutation that leads to red hair

Answer 13

MC1R (melanocortin I receptor)

Question 14

Main innervation of the apocrine glands

Answer 14

Adrenergic

Question 15

Location of genes for keratins 1-9?

Answer 15

Basic keratins, chromosome 12

Question 16

Location of genes for keratins 10-20?

Answer 16

Acidic keratins, chromosome 17

Question 17

Rate of growth of scalp hair per day

Answer 17

0.4 mm

Question 18

Rate of growth of fingernails per day

Answer 18

0.1 mm, takes 4-6 months to grow a new nail

Question 19

Layer of occlusion in miliaria rubra?

Answer 19

Granular layer (prickle layer = prickly heat)

Question 20

Layer of occlusion in miliaria crystallina

Answer 20

Stratum corneum

Question 21

Histopathology of pernio

Answer 21

Superficial and deep perivascular and periadnexal inflammatory infiltrate on acral skin

Question 22

Timing of eruption in PMLE

Answer 22

1-4 days after exposure

Question 23

HLA associated with actinic prurigo

Answer 23

HLA DR4

Question 24

Antigen associated with chronic actinic dermatitis

Answer 24

Sesquiterpene lactone

Question 25

Complication of lasering white tattoo

Answer 25

Oxidation of ferric to ferrous oxide, darkening

Question 26

CYP form with the most polymorphisms

Answer 26

CYP2D6

Question 27

Test prior to starting dapsone

Answer 27

G6PD

Question 28

Medication never to start when on azathioprine

Answer 28

Allopurinol

Question 29

Most common immunodeficiency and clinical findings

Answer 29

Selective IgA deficiency, majority a symptomatic, anaphylaxis with IVIG

Question 30

Lab test to diagnose Wiskott-Aldrich?

Answer 30

CBC - low platelets

Question 31

Test to diagnose Griscelli?

Answer 31

Examine hair, large melanosomes

Question 32

Lab test to diagnose Chediak-Higashi

Answer 32

CBC - PMNs with large granules

Question 33

Gene for X-linked agammaglobulinemia

Answer 33

PTK - protein tyrosine kinase

Question 34

Test for chronic granulomatous disease

Answer 34

NBT (nitro blue) assess oxidative burst

Question 35

Gene for Papillon Lefevre?

Answer 35

Cathepsin

Question 36

Other name for Richner-Hanhart

Answer 36

Tyrosinemia type II

Question 37

Gene and mode of transmission for Darier's

Answer 37

ATP2A2, AD

Question 38

Gene for KID

Answer 38

GJB2, connexin 26

Question 39

Gene for erythrokeratoderma variabilis

Answer 39

GJB3, connexin 31

Question 40

Genes for Vohwinkel

Answer 40

Loricrin, GJB2

Question 41

Genes for PPK

Answer 41

Keratins 1 & 9

Question 42

Life threatening syndrome associated with abacavir

Answer 42

DISH/DRESS

Question 43

Life threatening reaction associated with neviripine

Answer 43

SJS/TEN

Question 44

Mode of action of terbinafine

Answer 44

Squalene epoxidase inhibitor

Question 45

Mode of action of azoles

Answer 45

14-alpha-demethylase inhibitor

Question 46

Spectrum of action of griseofulvin

Answer 46

Dermatophyte only

Question 47

Antiviral for resistant HSV

Answer 47

Foscarnet or cidofivir

Question 48

Other name for HHV3

Answer 48

VZV

Question 49

Other name for HHV4

Answer 49

EBV

Question 50

Other name for HHV5

Answer 50

CMV

Question 51

Disease associated with low early complement levels (C2,C4)

Answer 51

Autoimmune diseases, lupus

Question 52

Disease associated with low late complement levels (C5-9)

Answer 52

Recurrent neisseria meningitis

Question 53

Nerve fiber that carries itch

Answer 53

Small unmyelinated C fibers