GENOD Flashcards
1
Q
painful crises whorled corneal opacities
A
• A-galactosidase A –
2
Q
descemets membrane hepatolenticular degenration blue lunular KF rings
A
• Wilsons disease
3
Q
HPV5
A
• EDV
4
Q
ichthyosis lipid vacuoles
A
• chanarin dorfman-
5
Q
anodontia
A
• hypomelanosis ito
6
Q
keratin 2e
A
ichthyosis bullosa siemens
7
Q
trichorrhexis invaginata eyebrows,
A
netherton syndrome
8
Q
stippled epiphyses in ?
A
CHILD syndrome
9
Q
follicular atrophoderma hypohidrosis hypoteichosis multiple BCC
A
bazex syndrome ,
10
Q
K6a/16
mutated in
A
PC
11
Q
pincer nail focal PPK staph candida paronychia
A
K6a/16
12
Q
steatocystoma nail dystrophy natal teeth
A
6b/17-Type II
13
Q
dermatofibrosis lenticularis disseminata osteopoikilosis
A
• Buschke olendorf
14
Q
LEMD3
A
• Buschke olendorf
15
Q
sialophorin
KMS thrombocytooenia CHF disseminated intravascular coagulation GIB
A
wiskottaldrich
16
Q
lymphedema distichiasis syndrome feature
A
dbl eyelashes
17
Q
posterior subcapsular lenticular opacities
A
NF2
18
Q
, X-linked recessive,
mutation in ectodysplasin A
A
Anhidrotic ectodermal dysplasia: Christ-Siemens-Touraine syndrome
19
Q
photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, short stature, low cysteine or methionine contentin hair and nails,
A
Trichothiodystrophy:
20
Q
Trichothiodystrophy:no increased skin cancer
A
T
defect in DNA repair; same complementation group as XP group D,
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:
22
Q
koilonychias
A
mal de maleda-
23
Q
osteopathia striata, X-linked dominant, male lethal, vs IP( blistering lesions)
A
Focal dermal hypoplasia (Goltz syndrome):
24
Q
rhabdomyosarcoma most common
A
li fraumeni syndrome
25
Gardner AD( MR heterozygote) risk inheritance
50%
26
-APC –b catenin mediated transcription colonic polyposis
Gardner AD
27
lithium worsens
dariers
28
oral leukoplakia in what syndrone
dyskeratotisis congenita
29
actin assembly defect
kindler •
30
PTPN1
LEOPARD •
31
spastic ditetraplegia leukotriene accumulation•
Sjogren Larsson syndrome
32
colon ca keratoacanthoma
muirr torre- •
33
crumpled ears •
congenital contractural arachnodactylyl
34
XLR WAS gene
WAS-
35
mothers – CGD
DLE ,
36
nitroblue tetrazolium reduction assay
CGD
37
AIRE gene malabsorption severe chronic diarrhea
APECED
38
osteopoikilosis juvenile elastoma
buschke ollendorff syndrome
39
PORCN gene
Focal dermal hypoplasia (Goltz syndrome):
40
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.
Focal dermal hypoplasia (Goltz syndrome):
41
germline killin methylation,
Cowden syndrome-
42
keratotic plaque face,
KID-
43
dyskerin XLR,
dyskeratosis congenita-
44
CGD- inheritance
XLR
45
striae Elastosis perforans serpinginosa
| • •
marfan
46
exomphalos macroglossia gigantism
beckwith weidemann-•
47
epidermal nevus syndrome inheritance
sporadic
48
painful PPK pseudoherpetic keratitis, low tyrosine/phenylanaline diet
richner hanhart syndrome-
49
• mucosal neuroma phaechromocytoma medullary thyroid CA marfanoid RET protooncogen
Multiple endocrine neoplasia type 2b (multiple nucosal neuromas):
50
RET protooncogene
Multiple endocrine neoplasia type 2b (multiple nucosal neuromas):
51
AD, RET proto-oncogene.
Parathyroid tumors, pheochromocytomas, medullary thyroid cancer. Familial macular/
lichen amyloidosis
• Multiple endocrine neoplasia type 2a (Sipple syndrome):
52
fumarate hydratase deficiency
familial multiple cutaneous leiomyomatosis-
53
comma shaped corneal opacities, lamellar –transglutaminase
XL icthyosis •
54
congenital lipodystrophy hyperlipidemia hepatomegaly AN non ketotic insulin resstant DM
Beradinelli seip
55
esophageal CA endoscopy needs to be performed
Focal pressure related PPK- howel evans •
56
nuclear lamins mutation
Lipodystrophy-•
57
enchondroma chondrosarcoma
Maffucci syndrome –•
58
right sided cardiomyopathy wooly hair keratoderma plakoglobin
Naxos syndmr-
59
dwarfism salt pepper retina ↑sister chromatid xchange poikiloderma DNA helicase gene mutation
cockayne
60
Poikiloderma of face and extensor extremities, photosensitivity, premalignant
acral keratoses, alopecia, nail dystrophy, cataracts, hypogonadism, and solid tumors
(uncommon)
rothmund thompson,
61
AR, RECQL4 gene (DNA
| helicase
rothmund thompson,poikiloderma congenitale
62
5th finger clinodactyl
russel silver-
63
ABCA12
Harlequin fetus –
64
widely dispersed granular material amidst normal fibres, calcified elastic fibres, angiod streaks, ABCC6 gene
PXE- •
65
Diffuse congenital hemangiomatosis- •
liver
66
sialodosis fucosidosis fabry disase
Angiokeratoma corporis diffusum-
67
enzyme phosphorylate key DNA repair substrates
ATM –gene –•
68
• EBS MD
plectin
69
dyskeratosis congenita
Mucosal malignancy
70
angiod streaks
rupture bruchs membrane
71
medulloblastoma
basal cell nevus syndrome
72
phaechromocytoma medillary thyroid mucosal papule marfanoid habitus
men2b •
73
defective post replication repair,
XP
74
phaechromocytoma
MEN 2a/2b VHL NF
75
IL17R mutation,
CMCD
76
recurrent infx phagocytic cells increased DLE risk,
CGD
77
perinungual fibroma
TS ,
78
tram track calcifications,
, sturge weber
79
KIP2 macroglossia exophqlos gigantism ,-
beckwithweidemann
80
F2T trichorrhexis invaginata ,
netherton syndrom
81
orofacial digital
XLD,
82
pigment diluation hair skin,
phenylketonuria
83
no proression depigmented patches,
piebaldism-
84
Medulloblastomas
• nevoid basal cell carcinomas syndrome
85
string of pearls, ECM1 hoase cry scars yellow papules seizures hippocampal calcification,
Lipoid proteinosis –
86
Porphyria defective gene
ferrochelatase
87
low copper xlr cu transportinh ATPase
Menkes kinky hair
88
pili torti metaphyseal widening long bones
• Menkes kinky hair
89
banayan zonana proteus cowden
PTEN-
90
tuzun rombo nicolau balus braun falco syndrome
Atrophoderma vermiculata
91
epitheloid blue nevus atrial myxoma- echo
carney complex-,
92
(lentigenes atrial myxoma muccutaneous myxomas, blue nevi)
LAMB syndrome
93
hyperkeratotic cutaneous capillary venous malformations
Familial cerebral cavernoma –
94
-keratin 4-13 defect,
white sponge nevus
95
fibrillin 1 tall stature joint laxity,
EPS-
96
retinal cerebellar hemangioblastoma , RCC, phaechromocytoma,
VHL
97
RAS ERK MAPK pathway,
costello syndrome-
98
recurrent joint dislocations
EDS type 3
99
crowes sign optic glioma
NF1
100
TGM1 ALOX12B ALOXE3
NBCIE
101
dental enamel pits
Tuberous sclerosis
102
hyperhidrosis GlomeruloN- Urine A
Nail patella syndrome
103
dsRNA adenosine deaminase
dyschromatosis symmetrica hereditaria
104
Sporadic. Gastrointestinal polyposis, nail atrophy, alopecia,
generalized pigmentation of skin, melanotic macules on fingers
Cronkhite Canada syndrome
105
Arylsulfatase C gene
X linked ichthyosis
106
retention natal teeth • dock 8
hyperIgE
107
icthosys hystrix
k1
108
methimazole teratogen
ACC
109
calcitonin in which syndrime
MEN2a
110
-endoglin pulmonary AVF
, HHT1
111
ALK 1
HHT2
112
stat 3
hyperIgE ,
113
atp2c,
haileyhailey - ,
114
bloom syndrom rothmund thompson
mutation DNA helicase
115
cystathione b-synthetase,
homocytinuria defect
116
ALOXE3 encodes ? Implicate in which condition?
Lipoxygenase 3, CIE
117
ALOX12B encodes ? Implicate in which condition?
12R lipoxygenase, CIE
118
Genes involved in Non bullous CIE
TGM1, ALOXE3, ALOX12B
119
Genes implicated in lamellar icthyosis
TGM1 , ABCA 12
120
Common gene mutation for harlequin icthyosis and lamellar icthyosis
ABCA12
121
CYLD is a
negative regulator of the nuclear factor (NF)-kB signal transductionpathway, TSG
122
22q11.2 deletion syndrome present with
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
conotruncal cardiac defects, hypoparathyroidism, and thymic aplasia
DiGeorge syndrome
124
pharyngeal defects , dysmorphic facies, learning disabilities, and cardiac anomalies
velocardiofacial syndrome
125
(AIRE) controls the expression of organ-specific self-antigen in the thymus. Improper Expression of AIRE would most likely result inwhich of the following?
Failure of both negative selection and dele-tion of autoreactive T lymphocytes in thethymus
126
angioid streaks is pathognomonic for PXE
No
127
PXE is angioid streaks,which reflect damage to the elastic fibers in theBruch membrane present with
reduced visual acu-ity, in particular central field loss.
128
Systemic manifestations PXE includ e
GIB, cardiac, opthalmo
129
reed syndrome involve mutation
deficiencies of the FH enzyme. Krebs cycle and catalyzes the conversion of fumarate to malate.
130
most common malignancy in HLRCC
papillary renal cell cancer or collecting duct carcinoma
131
Punctate PPK mutations
P34 deficiency
132
PLS vs HMS PPK clincially ?
Diffuse PPK but HMS- arachnodactyly, acroosteolysis, onychogryphosis, pes planus.
133
Cathepsin mutation found
CTSC gene mutation is generally diag-nostic for PLS (along with periodontitis), it can alsobe found in HaimMunk syndrome (HMS),
134
PWS + cutis marmorata telangiectatica congenita (CMTC) associated with aberrant Mongolian spots
Type V PPV
135
PWS + epidermal nevus
Type 1 PPV
136
PWS dermal melanocytosis +_ nevus anemicus
Type 2 the mongolian is number 2
137
PWS nevus spilus +- nebus anemicus
Type 3. No. 3 loves to spill
138
PWS , dermal melanocytosis nevus spilus +- anemicus
Type 4. No. 4 is full house
139
palmoplantar keratoderma,hypodontia, hypotrichosis, nail dystrophy, and multiple periocular apocrine hidrocystomas.
Schopf schulz passarge
140
?finding is distinct and specific for SSPS and can help distinguish it from other similar ectodermal dysplasias.
multiple periocular apocrinehidrocystomas
141
Patients diagnosed with SSPS have an increased risk of
skin tumors, which can be benign or malignant. The finding of multiple palmoplantar eccrine syringofibroadenomas (ESFA)
142
cause of SSPS
WNT10A gene
| .
143
TTD increased riskof skin cancer ?
TTD do not have the increased riskof skin cancer seen in patients with XP.
144
Bandler syndrome?
```
a. Multiple perioral pigmented macules
manifestations
c. Autosomal dominant inheritance
d. Most patients require multiple transfusions
E. Intestinal vascular malformations
```
145
negative family history rule out PJS?
genetic defect often develops after spontaneousmutation, hence a negative family history does notrule out PJS.
146
PJS. Patients are at a ?-fold higher risk for developing
15x , gastrointestinal adenocarcinoma, ovariancarcinoma, breast carcinoma, and pancreatic carci-noma, lung and testicular cancer.
147
? replacement in patients with CGL resultsin remarkable improvement in the physical andendocrinologic manifestations of the disorder, in-cluding acanthosis nigricans.
Leptin
148
most prominent clinical manifestations are ochronosis, arthritis, and dark urine
Alkaptonuria
149
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.
alkaptonuria
150
Fabry disease, the most common cause of death.
cardiovascular disease
151
Recently, 3 major clinical features of NF1 werereported to portend a poor prognosis:
subcutaneous neurofibromas,
Absent cutaneous neurofibromas,
facial asymmetry.
152
Endocrine abnormality
| in NF1
b. autoimmune thyroiditis
153
most specific eye finding in patients withNF1 is
pigmented benign hamartomas
154
NF1 results from mutation of a
tumor suppressor gene
155
GTPase activating protein that inhibits ras protein
Neurofibromin
156
increase risk of
| following malignancy in patients with NF1
juvenile xanthogranuloma
chronic myelogenous leukemia
Hodgkin’s lymphoma
acute lymphoblastic leukemia
157
Which genodermatoses present with follicular atrophiderma?
Conradi hunerman, bazex syndrome
