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AAD ETAS > GENOD > Flashcards

GENOD Flashcards

1
Q

painful crises whorled corneal opacities

A

• A-galactosidase A –

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2
Q

descemets membrane hepatolenticular degenration blue lunular KF rings

A

• Wilsons disease

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3
Q

HPV5

A

• EDV

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4
Q

ichthyosis lipid vacuoles

A

• chanarin dorfman-

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5
Q

anodontia

A

• hypomelanosis ito

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6
Q

keratin 2e

A

ichthyosis bullosa siemens

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7
Q

trichorrhexis invaginata eyebrows,

A

netherton syndrome

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8
Q

stippled epiphyses in ?

A

CHILD syndrome

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9
Q

follicular atrophoderma hypohidrosis hypoteichosis multiple BCC

A

bazex syndrome ,

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10
Q

K6a/16
mutated in

A

PC

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11
Q

pincer nail focal PPK staph candida paronychia

A

K6a/16

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12
Q

steatocystoma nail dystrophy natal teeth

A

6b/17-Type II

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13
Q

dermatofibrosis lenticularis disseminata osteopoikilosis

A

• Buschke olendorf

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14
Q

LEMD3

A

• Buschke olendorf

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15
Q

sialophorin

KMS thrombocytooenia CHF disseminated intravascular coagulation GIB

A

wiskottaldrich

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16
Q

lymphedema distichiasis syndrome feature

A

dbl eyelashes

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17
Q

posterior subcapsular lenticular opacities

A

NF2

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18
Q

, X-linked recessive,

mutation in ectodysplasin A

A

Anhidrotic ectodermal dysplasia: Christ-Siemens-Touraine syndrome

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19
Q

photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, short stature, low cysteine or methionine contentin hair and nails,

A

Trichothiodystrophy:

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20
Q

Trichothiodystrophy:no increased skin cancer

A

T

defect in DNA repair; same complementation group as XP group D,

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21
Q

hair shows trichoschisis (“tiger-tail” banding) → alternating light
• and dark bands with polarizing microscope, sparse or absent eyelashes, eyebrows, axillary,
• pubic, and body hair

A

Trichothiodystrophy:

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22
Q

koilonychias

A

mal de maleda-

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23
Q

osteopathia striata, X-linked dominant, male lethal, vs IP( blistering lesions)

A

Focal dermal hypoplasia (Goltz syndrome):

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24
Q

rhabdomyosarcoma most common

A

li fraumeni syndrome

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25
Q

Gardner AD( MR heterozygote) risk inheritance

A

50%

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26
Q

-APC –b catenin mediated transcription colonic polyposis

A

Gardner AD

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27
Q

lithium worsens

A

dariers

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28
Q

oral leukoplakia in what syndrone

A

dyskeratotisis congenita

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29
Q

actin assembly defect

A

kindler •

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30
Q

PTPN1

A

LEOPARD •

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31
Q

spastic ditetraplegia leukotriene accumulation•

A

Sjogren Larsson syndrome

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32
Q

colon ca keratoacanthoma

A

muirr torre- •

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33
Q

crumpled ears •

A

congenital contractural arachnodactylyl

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34
Q

XLR WAS gene

A

WAS-

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35
Q

mothers – CGD

A

DLE ,

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36
Q

nitroblue tetrazolium reduction assay

A

CGD

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37
Q

AIRE gene malabsorption severe chronic diarrhea

A

APECED

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38
Q

osteopoikilosis juvenile elastoma

A

buschke ollendorff syndrome

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39
Q

PORCN gene

A

Focal dermal hypoplasia (Goltz syndrome):

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40
Q

Linear atrophy following Blaschko’s lines -whorled with areas of fat herniation,mucocutaneous papillomas and pits, alopecia, nail dystrophy, tooth abnormalities,musculoskeletal defects (osteopathia striata),
colobomas.

A

Focal dermal hypoplasia (Goltz syndrome):

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41
Q

germline killin methylation,

A

Cowden syndrome-

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42
Q

keratotic plaque face,

A

KID-

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43
Q

dyskerin XLR,

A

dyskeratosis congenita-

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44
Q

CGD- inheritance

A

XLR

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45
Q

striae Elastosis perforans serpinginosa

• •

A

marfan

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46
Q

exomphalos macroglossia gigantism

A

beckwith weidemann-•

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47
Q

epidermal nevus syndrome inheritance

A

sporadic

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48
Q

painful PPK pseudoherpetic keratitis, low tyrosine/phenylanaline diet

A

richner hanhart syndrome-

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49
Q

• mucosal neuroma phaechromocytoma medullary thyroid CA marfanoid RET protooncogen

A

Multiple endocrine neoplasia type 2b (multiple nucosal neuromas):

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50
Q

RET protooncogene

A

Multiple endocrine neoplasia type 2b (multiple nucosal neuromas):

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51
Q

AD, RET proto-oncogene.
Parathyroid tumors, pheochromocytomas, medullary thyroid cancer. Familial macular/
lichen amyloidosis

A

• Multiple endocrine neoplasia type 2a (Sipple syndrome):

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52
Q

fumarate hydratase deficiency

A

familial multiple cutaneous leiomyomatosis-

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53
Q

comma shaped corneal opacities, lamellar –transglutaminase

A

XL icthyosis •

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54
Q

congenital lipodystrophy hyperlipidemia hepatomegaly AN non ketotic insulin resstant DM

A

Beradinelli seip

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55
Q

esophageal CA endoscopy needs to be performed

A

Focal pressure related PPK- howel evans •

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56
Q

nuclear lamins mutation

A

Lipodystrophy-•

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57
Q

enchondroma chondrosarcoma

A

Maffucci syndrome –•

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58
Q

right sided cardiomyopathy wooly hair keratoderma plakoglobin

A

Naxos syndmr-

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59
Q

dwarfism salt pepper retina ↑sister chromatid xchange poikiloderma DNA helicase gene mutation

A

cockayne

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60
Q

Poikiloderma of face and extensor extremities, photosensitivity, premalignant
acral keratoses, alopecia, nail dystrophy, cataracts, hypogonadism, and solid tumors
(uncommon)

A

rothmund thompson,

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61
Q

AR, RECQL4 gene (DNA

helicase

A

rothmund thompson,poikiloderma congenitale

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62
Q

5th finger clinodactyl

A

russel silver-

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63
Q

ABCA12

A

Harlequin fetus –

64
Q

widely dispersed granular material amidst normal fibres, calcified elastic fibres, angiod streaks, ABCC6 gene

A

PXE- •

65
Q

Diffuse congenital hemangiomatosis- •

A

liver

66
Q

sialodosis fucosidosis fabry disase

A

Angiokeratoma corporis diffusum-

67
Q

enzyme phosphorylate key DNA repair substrates

A

ATM –gene –•

68
Q

• EBS MD

A

plectin

69
Q

dyskeratosis congenita

A

Mucosal malignancy

70
Q

angiod streaks

A

rupture bruchs membrane

71
Q

medulloblastoma

A

basal cell nevus syndrome

72
Q

phaechromocytoma medillary thyroid mucosal papule marfanoid habitus

A

men2b •

73
Q

defective post replication repair,

A

XP

74
Q

phaechromocytoma

A

MEN 2a/2b VHL NF

75
Q

IL17R mutation,

A

CMCD

76
Q

recurrent infx phagocytic cells increased DLE risk,

A

CGD

77
Q

perinungual fibroma

A

TS ,

78
Q

tram track calcifications,

A

, sturge weber

79
Q

KIP2 macroglossia exophqlos gigantism ,-

A

beckwithweidemann

80
Q

F2T trichorrhexis invaginata ,

A

netherton syndrom

81
Q

orofacial digital

A

XLD,

82
Q

pigment diluation hair skin,

A

phenylketonuria

83
Q

no proression depigmented patches,

A

piebaldism-

84
Q

Medulloblastomas

A

• nevoid basal cell carcinomas syndrome

85
Q

string of pearls, ECM1 hoase cry scars yellow papules seizures hippocampal calcification,

A

Lipoid proteinosis –

86
Q

Porphyria defective gene

A

ferrochelatase

87
Q

low copper xlr cu transportinh ATPase

A

Menkes kinky hair

88
Q

pili torti metaphyseal widening long bones

A

• Menkes kinky hair

89
Q

banayan zonana proteus cowden

A

PTEN-

90
Q

tuzun rombo nicolau balus braun falco syndrome

A

Atrophoderma vermiculata

91
Q

epitheloid blue nevus atrial myxoma- echo

A

carney complex-,

92
Q

(lentigenes atrial myxoma muccutaneous myxomas, blue nevi)

A

LAMB syndrome

93
Q

hyperkeratotic cutaneous capillary venous malformations

A

Familial cerebral cavernoma –

94
Q

-keratin 4-13 defect,

A

white sponge nevus

95
Q

fibrillin 1 tall stature joint laxity,

A

EPS-

96
Q

retinal cerebellar hemangioblastoma , RCC, phaechromocytoma,

A

VHL

97
Q

RAS ERK MAPK pathway,

A

costello syndrome-

98
Q

recurrent joint dislocations

A

EDS type 3

99
Q

crowes sign optic glioma

A

NF1

100
Q

TGM1 ALOX12B ALOXE3

A

NBCIE

101
Q

dental enamel pits

A

Tuberous sclerosis

102
Q

hyperhidrosis GlomeruloN- Urine A

A

Nail patella syndrome

103
Q

dsRNA adenosine deaminase

A

dyschromatosis symmetrica hereditaria

104
Q

Sporadic. Gastrointestinal polyposis, nail atrophy, alopecia,
generalized pigmentation of skin, melanotic macules on fingers

A

Cronkhite Canada syndrome

105
Q

Arylsulfatase C gene

A

X linked ichthyosis

106
Q

retention natal teeth • dock 8

A

hyperIgE

107
Q

icthosys hystrix

A

k1

108
Q

methimazole teratogen

A

ACC

109
Q

calcitonin in which syndrime

A

MEN2a

110
Q

-endoglin pulmonary AVF

A

, HHT1

111
Q

ALK 1

A

HHT2

112
Q

stat 3

A

hyperIgE ,

113
Q

atp2c,

A

haileyhailey - ,

114
Q

bloom syndrom rothmund thompson

A

mutation DNA helicase

115
Q

cystathione b-synthetase,

A

homocytinuria defect

116
Q

ALOXE3 encodes ? Implicate in which condition?

A

Lipoxygenase 3, CIE

117
Q

ALOX12B encodes ? Implicate in which condition?

A

12R lipoxygenase, CIE

118
Q

Genes involved in Non bullous CIE

A

TGM1, ALOXE3, ALOX12B

119
Q

Genes implicated in lamellar icthyosis

A

TGM1 , ABCA 12

120
Q

Common gene mutation for harlequin icthyosis and lamellar icthyosis

A

ABCA12

121
Q

CYLD is a

A

negative regulator of the nuclear factor (NF)-kB signal transductionpathway, TSG

122
Q

22q11.2 deletion syndrome present with

A

22q11. 2 deletion syndromepresent with either DiGeorge syndrome (conotrun-cal cardiac defects, hypoparathyroidism, and thymicaplasia) or velocardiofacial syndrome (pharyngealdefects, dysmorphic facies, learning disabilities, andcardiac
anomalies) .

123
Q

conotruncal cardiac defects, hypoparathyroidism, and thymic aplasia

A

DiGeorge syndrome

124
Q

pharyngeal defects , dysmorphic facies, learning disabilities, and cardiac anomalies

A

velocardiofacial syndrome

125
Q

(AIRE) controls the expression of organ-specific self-antigen in the thymus. Improper Expression of AIRE would most likely result inwhich of the following?

A

Failure of both negative selection and dele-tion of autoreactive T lymphocytes in thethymus

126
Q

angioid streaks is pathognomonic for PXE

A

No

127
Q

PXE is angioid streaks,which reflect damage to the elastic fibers in theBruch membrane present with

A

reduced visual acu-ity, in particular central field loss.

128
Q

Systemic manifestations PXE includ e

A

GIB, cardiac, opthalmo

129
Q

reed syndrome involve mutation

A

deficiencies of the FH enzyme. Krebs cycle and catalyzes the conversion of fumarate to malate.

130
Q

most common malignancy in HLRCC

A

papillary renal cell cancer or collecting duct carcinoma

131
Q

Punctate PPK mutations

A

P34 deficiency

132
Q

PLS vs HMS PPK clincially ?

A

Diffuse PPK but HMS- arachnodactyly, acroosteolysis, onychogryphosis, pes planus.

133
Q

Cathepsin mutation found

A

CTSC gene mutation is generally diag-nostic for PLS (along with periodontitis), it can alsobe found in HaimMunk syndrome (HMS),

134
Q

PWS + cutis marmorata telangiectatica congenita (CMTC) associated with aberrant Mongolian spots

A

Type V PPV

135
Q

PWS + epidermal nevus

A

Type 1 PPV

136
Q

PWS dermal melanocytosis +_ nevus anemicus

A

Type 2 the mongolian is number 2

137
Q

PWS nevus spilus +- nebus anemicus

A

Type 3. No. 3 loves to spill

138
Q

PWS , dermal melanocytosis nevus spilus +- anemicus

A

Type 4. No. 4 is full house

139
Q

palmoplantar keratoderma,hypodontia, hypotrichosis, nail dystrophy, and multiple periocular apocrine hidrocystomas.

A

Schopf schulz passarge

140
Q

?finding is distinct and specific for SSPS and can help distinguish it from other similar ectodermal dysplasias.

A

multiple periocular apocrinehidrocystomas

141
Q

Patients diagnosed with SSPS have an increased risk of

A

skin tumors, which can be benign or malignant. The finding of multiple palmoplantar eccrine syringofibroadenomas (ESFA)

142
Q

cause of SSPS

A

WNT10A gene

.

143
Q

TTD increased riskof skin cancer ?

A

TTD do not have the increased riskof skin cancer seen in patients with XP.

144
Q

Bandler syndrome?

A 
a. Multiple perioral pigmented macules
manifestations
c. Autosomal dominant inheritance
d. Most patients require multiple transfusions
E. Intestinal vascular malformations
145
Q

negative family history rule out PJS?

A

genetic defect often develops after spontaneousmutation, hence a negative family history does notrule out PJS.

146
Q

PJS. Patients are at a ?-fold higher risk for developing

A

15x , gastrointestinal adenocarcinoma, ovariancarcinoma, breast carcinoma, and pancreatic carci-noma, lung and testicular cancer.

147
Q

? replacement in patients with CGL resultsin remarkable improvement in the physical andendocrinologic manifestations of the disorder, in-cluding acanthosis nigricans.

A

Leptin

148
Q

most prominent clinical manifestations are ochronosis, arthritis, and dark urine

A

Alkaptonuria

149
Q

The diagnosis of ? is based on eleva-tion of HGA found in a 24-hour urine specimen bygas chromatography-mass spectrometry analysisor using a colorimetric assay.

A

alkaptonuria

150
Q

Fabry disease, the most common cause of death.

A

cardiovascular disease

151
Q

Recently, 3 major clinical features of NF1 werereported to portend a poor prognosis:

A

subcutaneous neurofibromas,
Absent cutaneous neurofibromas,
facial asymmetry.

152
Q

Endocrine abnormality

in NF1

A

b. autoimmune thyroiditis

153
Q

most specific eye finding in patients withNF1 is

A

pigmented benign hamartomas

154
Q

NF1 results from mutation of a

A

tumor suppressor gene

155
Q

GTPase activating protein that inhibits ras protein

A

Neurofibromin

156
Q

increase risk of

following malignancy in patients with NF1

A

juvenile xanthogranuloma
chronic myelogenous leukemia
Hodgkin’s lymphoma
acute lymphoblastic leukemia

157
Q

Which genodermatoses present with follicular atrophiderma?

A

Conradi hunerman, bazex syndrome

AAD ETAS (12 decks)

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