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0
Q

Name the gene mutation in EHK

A

K1 & K10

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1
Q

Name the pathological finding in ichthyosis vulgaris

A

Absent granular cell layer

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2
Q

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

A

Steroid sulfatase; prolonged labor

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3
Q

Gene for congenital ichthyosiform erythroderma?

A

Transglutaminase, ALOXE3

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4
Q

Gene for harlequin ichthyosis

A

ABCA12

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5
Q

Gene and eye finding in Sjogren-Larrson

A

FALDH; retinitis pigmentosa (glistening dot)

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6
Q

Gene and mode of transmission for Conradi Hunnerman

A

Emopmil binding protein; XLD

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7
Q

Bone finding in Conradi Hunnerman?

A

Stippled epiphyses

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8
Q

Gene for Refsum?

A

PAHX; phytanoyl-CoA hydroxylase (increases phytanic acid)

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9
Q

Gene for CHILD?

A

NSDHL

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10
Q

Gene and hair finding for Netherton’s?

A

SPINK5, trichorrexis invaginata

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11
Q

Name the major collagen in the dermis.

A

Collagen 1

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12
Q

Innervation of the eccrine glands

A

Cholinergic

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13
Q

Mutation that leads to red hair

A

MC1R (melanocortin I receptor)

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14
Q

Main innervation of the apocrine glands

A

Adrenergic

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15
Q

Location of genes for keratins 1-9?

A

Basic keratins, chromosome 12

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16
Q

Location of genes for keratins 10-20?

A

Acidic keratins, chromosome 17

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17
Q

Rate of growth of scalp hair per day

A

0.4 mm

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18
Q

Rate of growth of fingernails per day

A

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

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19
Q

Layer of occlusion in miliaria rubra?

A

Granular layer (prickle layer = prickly heat)

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20
Q

Layer of occlusion in miliaria crystallina

A

Stratum corneum

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21
Q

Histopathology of pernio

A

Superficial and deep perivascular and periadnexal inflammatory infiltrate on acral skin

22
Q

Timing of eruption in PMLE

A

1-4 days after exposure

23
Q

HLA associated with actinic prurigo

24
Q

Antigen associated with chronic actinic dermatitis

A

Sesquiterpene lactone

25
Q

Complication of lasering white tattoo

A

Oxidation of ferric to ferrous oxide, darkening

26
Q

CYP form with the most polymorphisms

27
Q

Test prior to starting dapsone

28
Q

Medication never to start when on azathioprine

A

Allopurinol

29
Q

Most common immunodeficiency and clinical findings

A

Selective IgA deficiency, majority a symptomatic, anaphylaxis with IVIG

30
Q

Lab test to diagnose Wiskott-Aldrich?

A

CBC - low platelets

31
Q

Test to diagnose Griscelli?

A

Examine hair, large melanosomes

32
Q

Lab test to diagnose Chediak-Higashi

A

CBC - PMNs with large granules

33
Q

Gene for X-linked agammaglobulinemia

A

PTK - protein tyrosine kinase

34
Q

Test for chronic granulomatous disease

A

NBT (nitro blue) assess oxidative burst

35
Q

Gene for Papillon Lefevre?

36
Q

Other name for Richner-Hanhart

A

Tyrosinemia type II

37
Q

Gene and mode of transmission for Darier’s

A

ATP2A2, AD

38
Q

Gene for KID

A

GJB2, connexin 26

39
Q

Gene for erythrokeratoderma variabilis

A

GJB3, connexin 31

40
Q

Genes for Vohwinkel

A

Loricrin, GJB2

41
Q

Genes for PPK

A

Keratins 1 & 9

42
Q

Life threatening syndrome associated with abacavir

A

DISH/DRESS

43
Q

Life threatening reaction associated with neviripine

44
Q

Mode of action of terbinafine

A

Squalene epoxidase inhibitor

45
Q

Mode of action of azoles

A

14-alpha-demethylase inhibitor

46
Q

Spectrum of action of griseofulvin

A

Dermatophyte only

47
Q

Antiviral for resistant HSV

A

Foscarnet or cidofivir

48
Q

Other name for HHV3

49
Q

Other name for HHV4

50
Q

Other name for HHV5

51
Q

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

A

Autoimmune diseases, lupus

52
Q

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

A

Recurrent neisseria meningitis

53
Q

Nerve fiber that carries itch

A

Small unmyelinated C fibers

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