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DERMATOLOGY > Genes > Flashcards

Genes Flashcards

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Dermatology Board Prep flashcards
1
Q

LEOPARD SYNDROME (Moynahan syndrome)

A

PTPNII - encodes a tyrosine phosphatase Shp2

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2
Q

Lamellar ichthyosis

A

transglutaminase 1

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3
Q

Bloom Syndrome

A

RecQL2, the BLM gene mutation, encodes for DNA helicase

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4
Q

Pseudoxanthoma elasticum

A

ABCC6 gene (ATP-using cell transporter)

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5
Q

Ehlers-Danlos syndrome

A

collagen 5

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6
Q

Tyrosine phosphatase Shp2

A

LEOPARD SYNDROME

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7
Q

Carney Complex (LAMB/NAME) syndrome

A

PRKAR1A gene, AD

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8
Q

Howell-Evans Syndrome

A

envoplakin

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9
Q

Osteogenesis Imperfecta

A

Collagen Type 1 (alpha1 AND alpha2 genes)

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10
Q

Collagen Type 1

A

Osteogenesis Imperfecta

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11
Q

Howell-Evans Syndrome

A

envoplakin

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12
Q

EBS Dowling Meara

A

EB Simplex type (split - basal layer)
AD
K5/K14

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13
Q

Weber-Cockayne

A

Localized EB Simplex
AD
K5/K14

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14
Q

Koebner

A

(Generalized)
EB Simplex
AD
K5/K14

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15
Q

EB Muscular Dystrophy

A

EB Simplex
ONLY AR EBS
Defect: Plectin

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16
Q

EB Mottled Pigmentation

A

EBS

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17
Q

Herliz- type EB

A

(EB Lethalis)
Junctional EB -split at basement membrane (lamina lucida)
AR
Laminin-5 (laminin 332)

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18
Q

Non-Herlitz EB

A

(Generalized Atrophic Benign EB, or GABEB)
JEB
AR
Laminin 5 OR BPAG2(BP180)

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19
Q

dyskerin

A

Dyskeratosis Congenita

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20
Q

Mode of inheritance for Dyskeratosis Congenits

A

XLR!!!!
&
AD

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21
Q

Dyskeratosis Congenita

A

DKC1 gene, which encodes protein dyskerin, which interacts with telemorases

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22
Q

This Genoderm’s dysfunctional protein interacts with telemorases and increases sister chromatid exchanges

A

Dyskeratosis Congenita

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23
Q

EB with gene defect in alpha-6-beta-4 integrin

A

Junctional EB with pyloric atresia

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24
Q

EB Lethalis

A

Laminin 5 (Laminin 332)

*EB Lethalis is also called Herlitz

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25
Q

Other name for EB Herlitz type

A

EB Lethalis

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26
Q

Type of EB caused by a premature termination codon

A

EB Lethalis (Herlitz)

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27
Q

Other name for EB Non-Herlitz

A

Generalized atrophic benign EB

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28
Q

Gene defect in Non Herlitz Junctional EB

A

Laminin 5 (Laminin 332) OR BP180 (BPAG2)

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29
Q

Hay Wells

A

Ectodermal Dysplasia (Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome)

=p63

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30
Q

Busche-Ollendorf Syndrome

A

LEMD3 (MAN1)

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31
Q

Inheritance pattern for Buscke-Ollendorf Syndrome?

A

AD

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32
Q

LEMD3

A

Buschke-Ollendorf Syndrome

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33
Q

MAN1

A

Buscke-Ollendorf Syndrome

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34
Q

how many variants of XP are there?

A

seven complement groups (A-G), and one XP variant

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35
Q

defects in proteins encoded in the nucleotide excision repair pathway (NER)

A

All the XP types (with the exception of XP variant)

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36
Q

What is the XP variant mutation?

A

mutation in the DNA polymerase

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37
Q

which type of XP has a mutation in a DNA polymerase? (As opposed to the nucleotide excision pathway)

A

XP variant

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38
Q

Inheritance pattern of XP

A

AR

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39
Q

Familial melanoma

A

CDK2NA (INK4A)

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40
Q

Which chromosome is the PTCHD gene located on?

A

Chromosome 9q

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41
Q

upregulation of which oncogene is found in 50% of SCCs in immunosuppressed pts?

A

c-myc

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42
Q

loss of function of which gene was recently found in 75% of all cutaneous SCCs?

A

NOTCHED

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43
Q

Mutation in Ferguson Smith?

A

TGFBR1 gene (as a reminder, ferguson smith is multiple KAs syndrome)

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44
Q

The most important factor in the development of NMSC is…

A

skin phenotype!!! (thought it would be sun exposure but no)

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45
Q

Most frequent HPV types in EDV

A

HPV 5&8

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46
Q

All of the hereditary fever syndromes (the CAPS kind, or cryopryrin associated) are due to defects in what gene?
NOMID/CINCA
Muckle wells
Familial cold urticaria

A

NLRP3 (which encodes the protein cryopryin)

*new little rheum patients, cryin!

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47
Q

What two disorders have mutations in keratin 5?

A

Dowling Degos

&

EB simplex with mottled pigmentation

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48
Q

DSAP

A

SART3

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49
Q

SART3

A

DSAP

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50
Q

STK11 gene

A

Peutz-Jeghers Syndrome

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51
Q

Peutz-Jeghers Syndrome

A

STK11 gene

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52
Q

a serine threonine kinase

A

Peutz-Jeghers Sydnrome (STK11)

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53
Q

Bannayan-Riley-Ruvalcaba Syndrome

A

PTEN

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54
Q

Defect in lamellar ichthyosis

A

Transglutaminase 1

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55
Q

Bloom syndrome and Rothmund-Thompson both have defects in what cellular product?

A

DNA helicases

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56
Q

What two genoderms have defects in DNA Helicase?

A

Bloom syndrome and Rothmund Thompson

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57
Q

Muehrckes bands

A

Hypoalbunemia, chemotherapy, CHF!

Transverse white bands parallel to the lunula

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58
Q

Transverse white bands parallel to the lunula

A

Muerkes bands (CHF, hypoalbunemia, chemo)

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59
Q

Terry’s nails

A

Proximal 2/3 white nail, distal 1/3 brown/pink

Cirrhosis, hypoalbunemia, diabetes, cardiac disease

60
Q

Splinter hemorrhages

A

Trauma, PSO, endocarditis, vasculitis

61
Q

Which medications can cause onycholysis?

A

NSAID, PUVA, TCN

62
Q

Trachyonychia

A

20 nail dystrophy (found in alopecia areata, LP, PSO, eczema)

63
Q

What diseases are trachyonychia found in?

A

20 nail dystrophy - PSO, LP, AA, eczema

64
Q

Red lunula

A

COPD, cirrhosis, RA, SLE, cardiac failure, aa, CO poisoning

65
Q

Nail pitting

A

PSO, AA

66
Q

What are large 2mm pits in the nail called?

A

Elkonyxis

67
Q

Large 2mm pits in the nails

A

Elkonyxis

68
Q

Longitudinal ridging and fissuring of the plate

A

Onychorrhexis (normal with agin), also seen in LP, trauma, repeated wet dry cycles

69
Q

Onychorrhexis

A

Longitudinal ridging in the nail matrix (normal with age, cause by trauma, LP)

70
Q

Onychomadesis

A

Detachment of the nail plate from proximal nail fold - shedding of the nail

TEN, autoimmune, medications (chemo), trauma

71
Q

What nail finding can you see in TEN?

A

Onychomadesis

72
Q

Detachment of the nail plate from proximal nail fold

A

Onychomadiesis

73
Q

“Nail shedding”

A

Onychomadiesis

74
Q

What conditions and medications do you see onychomadiesis in?

A

PCN, TEN/SJS, syphilis, pemphigus, radiation, carbamazepine, lithium, doxycycline

75
Q

Photo-onychomadesis is cause by which medication?

A

Doxycycline

76
Q

Doxycycline can cause what nail condition?

A

Photo-onychomadiesis

77
Q

Carbamazepine can cause what nail condition?

A

Onychomadiesis

78
Q

Chemo causes what nail finding

A

Onychomadiesis (nail shedding) - detachment of the nail plate from the proximal nail fold

79
Q

Transverse lines of entire nail breadth in all nails

A

Mees lines

Arsenic poisoning!

80
Q

Nail finding in arsenic poisoning

A

Mees lines!

Transverse ridging in all nails full width of nails

81
Q

Mees lines

A

Arsenic poisoning

Transverse ridging in all nails full breadth of the nail

82
Q

GI polyposis, alopecia, generalized pigmentation, nail dystrophy

A

Cronkite-Canada Syndrome

83
Q

Cronkite-Canada Syndrome

A

Nail dystrophy, generalized pigmentation, GI polypoidosis, alopecia

84
Q

Spoon Nails

A

Iron deficiency

Koilonychia

85
Q

Koilonychia

A

Iron deficiency, thyroid abnormality (spoon nails)

86
Q

Beau’s lines

A

Severe systemic even (in all nails), or trauma (in one nail)

Transverse depression in nail plate surface

87
Q

Terry’s nails

A

Cirrhosis, DM, cardiac disease

88
Q

Yellow nail syndrome

A

Absent lunula
Yellow nails
Lymphedema
Pleural effusions

89
Q

Absent lunula
Yellow nails
Lymphedema
Pleural effusions

A

Yellow nail syndrome

90
Q

Absent lunula

A

Yellow nail syndrome

AND

Renal failure

91
Q

Hypoplastic nails, triangular lunula

A

Nail-Patella syndrome (also small knee caps)

Pointed iliac crests

92
Q

Picture of hypoplastic knee caps

A

Nail patella syndrome

93
Q

What can PUVA do to your nails?

A

Give you blue lunula

94
Q

EHK mutation

A

Keratin1, keratin 10

95
Q

Lamellar ichthyosis

A

TGM1 gene or ABCA12

96
Q

X-linked ichthyosis

A

STS (steroid sulfatase deficiency, arylsuflstase C)

97
Q

X-Linked ichtyosis

A

Steroid sulfatase (STS) , arlysulfatase C

98
Q

Lamellar ichthyosis gene defect

A

TGM1 gene (also ABCA)

99
Q

EHK gene defect

A

Keratin 1, Keratin 10

100
Q

Gene defect in Sjogren Larsson syndrome

A

FALDH gene (“fall down” - bc they have spastic dtetraplegia and the corneal white dot opacities)

101
Q

CHILD SYNDROME

A

NSDHL (NADPH steroid dehydrogenase)

102
Q

CHILD syndrome gene defect

A

NSDHL (NADPH steroid dehydrogenase-like protein)

103
Q

Conradi-Hunermann-Happle Syndrome

A

EBP gene

Emopamil-binding proteins = impaired cholesterol synthesis

104
Q

Conradi-Hunermann-Happle syndrome is the XLD form of what genoderm?

A

Condrodrysplasia Punctata

105
Q

What is the XLD form of Condrodysplasia?

A

Conradi-Hunermann-Happle syndrome

106
Q

Condrodysplasia Punctata

A

Arylsulfatase E

107
Q

Rhizomelic Chondrodysplasia punctata

A

PEX7

108
Q

PEX7

A

Rhizomelic Chondrodysplasia Punctata

109
Q

EBP gene

A

Conradi-Hunermann-Happle Syndrome

110
Q

KID Syndrome

A

GJB2, encodes connexin 26

111
Q

GJB2 gene defect, encoding connexin 26

A

KID Syndrome. (Konnexin 26)

112
Q

PAHX gene

A

Refsum

113
Q

Refsum

A

PAHX, or PEX7

114
Q

PEX7 gene

A

Refsum

115
Q

Infantile Refsum

A

PEX1, PEX2, PEX26

116
Q

Darier Disease

A

ATP2A2

117
Q

ATP2A2

A

Darier

118
Q

What protein does the mutation in Darier encode?

A

SERCA2 (sarcoendoplasmic reticulum calcium ATPase), the gene defect is ATP2A2

119
Q

Acral/mucosal melanoma

A

KIT

120
Q

Uveal melanoma

A

GNAQ

121
Q

Non-Sun damaged skin melanoma

A

BRAF

122
Q

Brooke Speigler

A

CLYD

123
Q

CLYD

A

Brooke Speigler

124
Q

Acrodermatitis Enteropathica

A

SLC39A4

125
Q

Mendes de Costa (Erythrokeratodermia Variabilis)

A

Connexin 31, Connexin 30 (GJB3, GJB4)

126
Q

Gene defect in Lipoid Proteinosis

A

ECM-1 gene

*also gene defect in Lichen Sclerosus

127
Q

What two disorders harbor gene mutations to ECM-1?

A

Lichen Sclerosus and Lipoid Proteinosis

128
Q

Other gene defect besides PTEN for Cowden syndrome

A

KILLN

129
Q

KILLN gene

A

Cowden (also PTEN)

130
Q

Name three disorders with PTEN mutation

A

Cowden
Bannayan-Riley
Proteus

131
Q

Gene defect in Werners

A

Werner (adult progeria) defect is Recql2

132
Q

Gene defect in Progeria (childhood form - Hutchison Gilford)

A

Laminin A gene (Werner or adult progeria is RecQL2)

133
Q

Lamin A (LNMA)

A

Hutchison-Gilford Progeria (congenital progeria)

134
Q

1 plant family causing airborne ACD

A

Compositae (Asteracea - dandelions, chrysanthemum, sunflower)

135
Q

Mutation in ATP7A

A

Menkes, XLR

136
Q

Mutation in Menkes

A

ATP7A, XLR. This is a defect in a copper transporter

137
Q

hHb1, hHb6 gene defect

A

Monilethrix

*note DSG4 in the AR recessive form

138
Q

Mutation in piebaldism

A

C-KIT

139
Q

Red-heads have this mutation

This mutation increases what ratio related to melanin?

A

MC1-R gene
Increases the phenomelanin:eumelanin ratio which gives the red hair fair skin phenotype and increases the risk of melanoma

140
Q

Gene defect in Proteus

A

AKT-1 (used to be PTEN)

141
Q

H syndrome

A

SLC29A3 (encodes a nucleoside transporter)

142
Q

TWIST2 gene

A

Seitles Syndrome (*setters syndrome - bilateral aplasia cutis, long eyelashes, leonine faces, upward slanting eyebrows, peurto ricans)

143
Q

Name the disease associated with each gene:
SLC29A3
SLC39A4
SLC49A2

A

SLC29A3-H syndrome
SLC39A4-Acrodermatitis enteropathica
SLC49A2- Vitiligo

144
Q

What syndrome is holocarboxolase deficiency seen in?

A

Multiple carboxylase deficiency

145
Q

PAPA syndrome (pyogenic arthritis, PG, acne)

A

CD2BP1 and PSTPIP1

146
Q

Apert Syndrome (AD, bone defects, resistant acne)

A

FGFR2

147
Q

Spitz mutations

A

Tyrosine kinase receptors

DERMATOLOGY (16 decks)

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