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Dermatology > Genoderms > Flashcards

Genoderms Flashcards

1
Q

Griscelli

A

Myosin 5A, RAB27A, MLPH
GS1-pancyopen, immunodef, neuro
GS2-accel phase without granules on smear

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2
Q

Chedhak-Higashi

A

LYST/CH1 (lysosome transport gene)

OCA, ataxia, Giant lysosomal granules, accelerated phase with pancytopenia/death, lymphhistio of reticendo sys

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3
Q

Elejalde syndrome

A

Varianct of GS1

Neuro dysftn but no immunodef

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4
Q

Hermansky-Pudlak

A

HPS (lysosomal transport)
AP3B1 (endocytic/exocytic sorting)
OCA, plts without bodies, ceroid storage cause pulm fibrosis, granulom colitis, CM, renal failure

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5
Q

Nieman-Pick

A

A:infancy, CNS, cherry red spot-blindness
B:infancy/childhood, no cns
c:childhood, psychomotor deterrer, HSM

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6
Q

Hemochromatosis

A

AR: HFE, HJV, HAMP, TFR2
AD: ferroprotein
vibrio, yersinia

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7
Q

Wilson

A

ATP7B

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8
Q

Acrodermatitis enteropathica

A

SLC39A4

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9
Q

Homocystinuria

A

cystathione B-synthase

increased homocyst and methionine levels in blood/urine, malar flush, DVTs, glaucoma

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10
Q

Phenylketonuria

A

phenylalanine hydroxylase or tetrahydrobiopterin

sclerodermoid changes, blond, blue

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11
Q

Multiple carboxylase deficiency

A

biotinidase def or holocarboxylase synthetase def.

periorificail and generalized dermatitis, hypotonia, optic atrophy, hyperammonia

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12
Q

Hurler and Scheie

A

alpha-L-iduronidase

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13
Q

Hunter

A

XLR; iduronate sulfate

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14
Q

Sanfilippo

A

Multiple enzymes

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15
Q

Maroteaux-Lamy

A

Arylsulfatase B

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16
Q

Morquio

A

hexosamine 6-sulfatase or b-galactosidase

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17
Q

Gaucher

A

acid beta-glucosidase gene
Ehrlenmeyer flask deform of bones
1-adult, 2-infants
glucocerbroside in histiocytes

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18
Q

Alkaptonuria

A

Ochronosis–homogentisic acid oxidase

dark urine and all else

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19
Q

Riley Day (familial dysautonomia)

A

IKBKAP
no fungiform papillae
decreased tears

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20
Q

Noonan

A

PTPN11
LE lymphedema, CALMS, hypogonad
Like female turner–pulmonic valve stenosis

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21
Q

Trisomy 8

A

like nail-patella, no patella, short nail

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22
Q

Downs

A

low alphaFP

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23
Q

Muir Torre

A

MSH2 and MLH1–dna mismatch repair

GI and larynx carcinomasP

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24
Q

Werner

A

RECQL2-chronic leg ulcers, sarcoma

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25
Q

Rothmund Thompson

A

RECQL4-premalignant acral keratoses, solid tumors

26
Q

Bloom

A

RECQL3-hypogammaglobulinemia, leuk, lymphoma, GI CA and oral/esop SCC

27
Q

Cockayne

A

CSA-ERCC8
CSB-ERCC6
, no inc risk of CA

28
Q

Wiskott-Aldrich

A

WASP; dec IgM, elevated A/D/E; 20% risk lymphoretic

29
Q

CGD

A

CYBA, XLR: CYBB, NCF1 and 2

nitroblue tetrazolium redcution assay

30
Q

Hyper IgE/JOB

A

STAT3, broad nasal bridge

31
Q

SCID

A

XLR; ADA deficiciency

IL-2 receptor gene most common, JAK 3, IL7R

32
Q

Omenn

A

RAG1 and RAG2

33
Q

Chronic mucocutaneous candidiasis

A

thyroid disease

34
Q

APECED

35
Q

X-linked agammaglobulinemia (britons)

A

BTK; all Igs decreased

36
Q

Common variable

A

TNFRSF13 ,TNFRSF13C, CD19

IgG and IgA decreased

37
Q

Selective IgA def

38
Q

X-linked hyperIgM syndrome

A

CD40LG

Incr IgM and decreased A/E/G

39
Q

Li-Fraumeni Syndrome

A

p53, breast, brain, osteosarc, leak

40
Q

Reed-

A

fumarate hydratoase

41
Q

Familial dysplastic nevi

A

CDK2NA (p16)

42
Q

Common melanocytic nevi and malig mel

43
Q

Hoyeraal-Hreidarsson Syndrome

A

Dysker congen + posterior fossa malformation
XR: dyskerin
AD: TERC

44
Q

MEN2b

A

RET, medullary thyroid, pheo, parathyroid ca

45
Q

Bannayan Riley Ruvalcaba

A

PTEN, macroceph, genital lentigenes, hamartomas, lipomas, MR

46
Q

Cowden

A

PTEN and Killin

Macroceph, tricholemmomas, acral keratosis, sclerotic fibromas, Breast, Thyroid, GI

47
Q

Peutz-Jeghers

A

STK11/LKB1, ovarian sex cord tumor, breast, pancreas, endometrial cancer

48
Q

Cronkite canada

A

GI polyposis, nail atrophy melanotic macules on fingers, generalized pigmentation

49
Q

Gardner

A

APC, GI cancer, CHRPE, facial osteoma, extranummery teeth, desmoid tumors

50
Q

Schopf-Schulz-Passarge

A

hidrocystoma of eyelid, hypotrichosis, hypodontia, nail abn, multiple palm/plantar eccrine syringofibroadenomas

51
Q

BHD

A

folliculin

collagenomas, lipomas, oral fibromas, RCC, medulary thyroid CA, colon ca

52
Q

Nicolau-Balus Syndrome

A

eruptive syringomas, milia, atrophoderma vermiculata

53
Q

Brook-Spiegler

A

cylindroma, trichoepithelioma

54
Q

Rasmusen syndrome

A

Milia, trichoepitheliomas, cylindromas

55
Q

Tuzin

A

Atrophoderma vermiculata, scrotal tongue

56
Q

Braun-Falco-Marghescu

A

Atrophoderma vermiculata, PPK, KP

57
Q

Rombo

A

Atrophoderma vermiculata, BCCs, trichoepitheliomas, hypotrich, acrocyan

58
Q

Bazex

A

Follicular atroph on backs hands and feet, HYPOHYDROSIS, hypotrichosis, BCCS

59
Q

Gorlin

A

Patched gene (dec patch, inc smooth, uncontr prolif). Calcif Falx, meduloblast, ovarian fibromas and fibrosarcomas

60
Q

Dermatopathia Pigmentosa Reticularis

A

K14: reticulate hyperpig, nonscar ALOPECIA, onychodystrophy

adermatoglyphia, PPK, hypohidrosis

61
Q

Naegeli-Franseschetti-Jadassohn

A

K14:
retic pigmentation, better with age. POOR DENTITION
adermatoglyphia, PPK, hypohidrosis

Dermatology (20 decks)

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