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Re and Tim Derm > Genoderms > Flashcards

Genoderms Flashcards

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Dermatology Board Prep flashcards
1
Q

SLC6A19

A

Hartnup

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2
Q

FUCA1 mutation

A

Fucosidosis

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3
Q

Menin

A

Multiple endocrine neoplasia 1

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4
Q

RET Gene

A

Multiple endocrine neoplasia 2A/2B

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5
Q

PTEN gene

A

PTEN Hamartoma Tumour Syndrome (Cowden)

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6
Q

APC gene

A

Gardner Syndrome

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7
Q

MLH1, MSH2, MSH6 mutation

A

Muir-Torre Syndrome

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8
Q

Deficiency of homogentisate 1,2-dioxygenase
(accumulation of homogentisic acid (HGA))

A

Alkaptonuria (Ochronosis)

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9
Q

GLA mutation

A

Fabry Disease

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10
Q

Glucocerebrosidase deficiency

A

Gaucher Disease

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11
Q

Acid sphingomyelinase deficiency
(accumulates phospholipids + sphingomyelin)

A

Niemann-Pick Disease

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12
Q

Phenylalanine hydroxylase deficiency
(cant convert phenylalanine to tyrosine so phenylalanine accumulates)

A

Phenylketonuria

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13
Q

LMNA mutation (Laminins A and C)

A

Hutchinson-Gilford Progeria Syndrome

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14
Q

RECQL2 mutation

A

Werner Syndrome

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15
Q

RECQL4 mutation

A

Rothmund-Thomson

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16
Q

POLD1 gene

A

MDPL Syndrome

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17
Q

Ectodysplasin A (EDA) gene, EDA-receptor mutation

A

Hypohidrotic Ectodermal Dysplasia

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18
Q

IKBKG/NEMO Gene mutation

A

XLR variant of Hypohidrotic Ectodermal Dysplasia and Immune Deficiency

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19
Q

NFKBIA gene mutation

A

AD variant of Hypohidrotic Ectodermal Dysplasia and Immune Deficiency

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20
Q

GJB6 mutation (Connexin 30)

A

Hidrotic Ectodermal Dysplasia (Clouston Syndrome)

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21
Q

MSX1 gene mutation (Muscle segment homeobox 1)

A

Wiktop Tooth and Nail Syndrome

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22
Q

TP63 gene

A

Ankyloblepharon-Ectodermal defects-Cleft lip/palate syndrome OR Ectodermal dysplasia-Ectrodactyly clefting syndrome

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23
Q

IKBKG Gene at Xq28 (NEMO protein)

A

Incontinentia Pigmenti

24
Q

PORCN gene

A

Goltz Syndrome (Focal Dermal Hypoplasia)

25
Q

EBP gene

A

Conradi-Hunermann-Happle Syndrome

26
Q

NSDHL mutation on Xq28

A

CHILD Syndrome

27
Q

HCCS on Xp22 mutation

A

MIDAS Syndrome

28
Q

OFD1 mutation on XP22-3-p22.2

A

Oral-Facial-Digital Syndrome Type 1

29
Q

POLA1 mutation

A

X Linked Reticulate Pigmentary Disorder

30
Q

G49A in AKT1

A

Proteus Syndrome

31
Q

GJAJ1 mutation (connexin 43)

A

ILVEN: Inflammatory Linear Verrucous Epidermal Naevus

32
Q

GJB2 mutation (connexin 26)

A

Porokeratotic Adnexal Ostial Nevus (PAON)
(Mosaic KID syndrome)

33
Q

fibroblast growth factor 1 gene (FGFR1) mutation

A

Encephalocraniocutaneous Lipomatosis (ECCL, Haberland Syndrome)

34
Q

GNAQ mutation

A

Sturge-Weber Syndrome OR
Phakomatosis pigmentovascularis type 2

35
Q

RASA1 Mutation

A

Capillary malformation-AV malformation syndrome

36
Q

PTPN11 mutation

A

LEOPARD Syndrome

37
Q

NF1 mutation

A

NF1

38
Q

SPRED1 mutation

A

Legius Syndrome

39
Q

TSC1 gene (hamartin) or TSC2 gene (Tuberin)

A

Tuberous Sclerosis

40
Q

KRT1 KRT9 mutation

A

Epidermolytic PPK
(Vorner-Unna-Thorst)

41
Q

AQP5
Keratin 1
SERPINB7
SLURP1

A

Non-Epidermolytic PPK

42
Q

Loricrin Mutation

A

Vohwinkel Keratoderma with Ichthyosis

43
Q

POMP mutation

A

KLICK Syndrome

44
Q

GJB2 gene - Gap junction B2
(connexin 26)

A

Vohwinkel Syndrome,
KID Syndrome
Bart-Pumphrey

45
Q

RSPO1 (R-spondin-1 gene)

A

PPK with Sex Reversal and SCC

46
Q

WNT 10 A mutation

A

Odonto-Onycho-Dermal Dysplasia

(Shopf-Shulz- Passarge)

47
Q

TRPV3 (Transient receptor potential vanilloid 3)

A

AD Variant Olmsted Syndrome

(Mutilating PPK with periorificial keratotic plaques)

48
Q

MBTPS2 mutation

A

XLR Variant Olmsted Syndrome

(Mutilating PPK with periorificial keratotic plaques)

49
Q

CTSC Gene (Cathespin)

A

Papillon-Lefevre and Haim-Munk

50
Q

JUP (Plakoglobin)

A

NAXOS Disease

51
Q

DSG1
Desmoplakin
Keratin 1

A

Striate PPK
(Types 1,2, 3)

52
Q

Keratins 6A, 6B, 6C, 16, 17

A

Pachyonychia Congenita

53
Q

RHBDF2
(Rhomboid 5 homolog 2 gene)

A

Howel-Evans Syndrome

54
Q

DSP (Desmoplakin) gene

A

Carvajal Syndrome

55
Q

AAGAB

Adaptin- binding protein p34

A

PPK Buschke-Fischer-Brauer type

Punctate PPK type 1

56
Q

ENPP1 mutation

A

Cole Disease

57
Q

CAST (calpastatin)

A

PLACK

Re and Tim Derm (2 decks)

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