systemic Flashcards
1
Q
xlr acral paresthesia renal failure
A
Fabry
2
Q
alpha galactosidase a defect
A
Fabry
3
Q
pityriasis rotunda is an indication of ?
A
paraneoplastic
4
Q
tripe palms
A
Hcc scc
5
Q
angiolipomas
A
tuberous sclerosis
6
Q
stk11 serine threonine kinase
A
peutz jeghers
7
Q
NHL CLL Thymoma castlemans tumor
A
paraneoplastic pemphigus
8
Q
thyroid malignancy
A
papillary adneoca
9
Q
rothmund thompson bloom werner xp
A
increased systemic maligancy
10
Q
neurologic
A
riga fede
11
Q
KI inhibit
A
thyroid hormone synthesis
12
Q
paraneoplastic DIF
A
granular C3
13
Q
c-anca
A
wegeners
14
Q
pyostomatitis vegetans
A
crohns disease
15
Q
eruptive xanthoma type of hypertriglyceridemia plane palmar xanthoma
A
1,4,5
16
Q
turcot syndrome is associated with?
A
colon ca
17
Q
NSF? paraproteinemia
A
no
18
Q
HSP DIF
A
c3 fibrin
19
Q
porphryin wavelength
A
400-410 nm
20
Q
birt hogg dube-
A
trichodiscoma fibrofolliculoma fibroepithelial polyp
21
Q
carcinoid syndrome- hi urine
A
5hydroxyindolacetic acid-somatastatin
22
Q
HCV alcohol estrogens polyhalogenated HC
A
PCT
23
Q
HCV pathogenesis PCT
A
uro decarboxylase deficiency iron stores decompartmentalisation
24
Q
plexiform neuroma NF1 JXG,
A
JCML
25
EPP absorption in soret band
protoporphyrin 9-
26
fecal coproporhyrinogen
VP
27
porphyria no skin
AIP
28
angiofibroma collagenoma
MEN1
29
RET protooncogene
MEN 1-2 AD,
30
multiple mucosal neuromas
MEN 2b
31
lichen macular amyloidosis
MEN2a sipple syndrome
32
no increased SCC but photosensitivity
IBID
33
HLA DQ2/DR3/B8
DH
34
all gluten sensitive enteropathy
DH
35
DH thyroid association
Graves
36
urine 5HIAA
carcinoid syndrome
37
scleroderemoid changes are seen in which syndrome
carcinoid syndrome
38
cyrproheptadine
carcinoid syndrome
39
honeycombed PPK star shaped keratosis pseudoainhaim
vohwinkel
| •
40
shoulder pad sign
systemic amyloidosis
41
DMS - men
(lymphoma)
42
Sclerodermatous thickenings
PCT
43
tuberin harmatin
TS bournavilles dz
44
an early sign of Gardner’s syndrome
```
Congenital hypertrophy of
retinal epithelium (CHRPE)
```
45
AR pili torti deafness
Bjornstadt
46
NLD % DM pt
<5%
47
childbearing TS bournavilles dz
pulmonary lymphagioleiomyoma
48
hyperkeratotic spicules
MM
49
blepharitis, symblepharon, ectropion NL
Cockayne Syndrome
50
Cockayne Syndrome
AR NER
51
lentiginese adenomatous GIT polyps weight loss onycholysis
• cronkhite canada
52
protein losing enteropathy
cronkhite canada
53
rate limiting protoporphyrinogen
ALA synthetase
54
only oxidized pophyrin
dALA -
55
Deafness,retinal atrophy, basalganglia calcifications
Cockayne Syndrome
56
terrys nails
cirrhosis,
57
necrobiotic xanthogranuloma commmon site
periorbital
58
necrobiotic xanthogranuloma aw
monoclonal gammopathy
59
trichofollicloma trichodsicoma RCC Ptx
BHD syndrome-
60
hep C type virus
SsRNa
61
coloboma part of which syndrome
BCC nevus S
62
Erythema Gyratum Repenscommonly linked with
gastric CA
63
risk of lhermitt duclos is increased in which syndrome
cowdens syndrome
64
SCC oropharyngeal
Bazex
65
APS ab+LL
NFD
66
ESRF hyperparathyroidism raised ca po4
calciphylaxis
67
wolf chiakoff effect
KI
68
Montgomery S -
xanthoma disseminatum
69
premature atherosclerosis
werner-
70
earliest NF-
CALM
71
NF prepuberty
, LIsch nodules
72
postpuberty
neurofibroma
73
HI-stool isocoprophyrin
HEP PCT
74
A falsely high ankle brachial pressure
index occurs in patients with diabetes mellitus caused by
d The toeebrachial pressure index should be
measured in patients with diabetes mellitus
whenever possible, and the toe pressure
should be [55 mm Hg for adequate peripheral
circulation to heal
glycosylation or
calcification leading to noncompressible
vessels)
75
ankle brachial pressure index value that indicate severe arterial disease and represents a significant
risk for delayed healing or a nonhealable
wound
<0.4
76
toe pressure value that indicate severe arterial disease and represents a significant
risk for delayed healing or a nonhealable
wound
\30 mm Hg,
77
pattern of flow
by handheld Doppler ultrasound that indicate severe arterial disease and represents a significant
risk for delayed healing or a nonhealable
wound
monophasic flow
| by handheld Doppler ultrasound
78
criterion standard for
| evaluation of limb perfusion in persons with diabetes
Segmental continuous wave Doppler examination
| and toe pressure
79
Patients with FAP and Gardner syndrome arepredisposed to what malignancy
duodenal, thyroid, brain (me-dulloblastomas), adrenal, and liver cancers
80
most common malignancy in FAP.
Colon, then Duodenal cancer is thesecond, thyroid, adrenal, hepatoblastoma, medulloblastoma
81
For gardner/FAP,
| Malignancy screening colon CA should begin at
1. 10 to 15 years ofage for classic FAP, and 18 years of age for attenu-ated FAP until the recommendation for surgery ismade.
Upper GI endoscopy is recommendedevery 1 to 3 years beginning at 25 to 30 years
2. annual thyroid examination increased riskof thyroid cancer.
82
PeutzeJeghers syndrome (PJS) is caused by agermline mutation in the STK11 gene present on chromosome
19p13.3
83
The most common malignancies in patientswith ? are small intestinal, colorectal, gas-tric, and pancreatic adenocarcinoma
breast, uterus, cervix, andtestes.
Breast cancer risk is of particular concern,afflicting 32% to 54% of patients.48,49 Malignantmelanoma is rarely reported.
PJS
84
The diagnosis of PJS requires the presence
ofhistopathologically confirmed hamartomatous polyps
2 out of 3 additional criteria, including character-istic mucocutaneous pigmentation, a specific type ofGI polyp, and a family history of PJS.
85
phosphatase and tensin homolog hamartom-atous tumor syndrome
Cowden syndrome
| Bannayan-Riley-Ruvalcaba syndrome
86
Breast, colon, and thyroid cancers are mostcommon malignancies associated with
Cow-den syndrome
87
.BRRS the most specific cutane-ous finding.
Hyperpigmented macules involving the glanspenis or vulva
88
hamartomatous gastrointestinalpolyps, macrocephaly,
hemangiomas, developmental delay
Which syndrome?
BRRS
89
Ocular abnormalities BRRS
involving the retina (Schwalbelines) and cornea occur in 35%of patients.
90
Neurofibromatosis has been linked to
Lynchsyndrome in patients with homozygous mu-tations of DNA mismatch repair genes
91
%adults over 40dermatomyositis
| mayhave an underlying malignancy, including agastrointestinal malignancy
15%-40%
92
Subtype tylosis occurs between 5 and 15years of age and is associated with a high incidence esophageal carcinomas
(Howel Evans syn-drome).
Type A
93
Paget cell histo
is large rounded cell with a clear pale vacuolated cytoplasm and a large eccentric nucleus, giving asignet ring appearance Positive stainingfor periodic acideSchiff mucin is also noted.
94
? the link between inflammatory bowel disease and epidermolysis bullosa acquisita.
Autoantibodies to the NC1 domain of collagen VII generated during
gastrointestinal inflammation
95
increase in the risk of non- Hodgkin lymphoma in patients
| diagnosed with dermatitis herpetiformis ?
Did not show a statisticallysignificant when compared to matched controls.
96
Which IBD lesions contiguous
| with external mucous branes oral and perianal)
CD
97
The severity of metastatic Crohn’s correlate with the severity
of the underlying Crohn’s disease?
does not always correlate Treat-ment of the latter does not necessarily guar-antee resolution of the former
98
Pyoderma gangrenosum incidence in IBD?
shows a higher cor-relation to ulcerative colitis than to Crohn’sdisease
99
In the setting of inflammatory bowel disease, which first-line treatment for refractory widespread pyoderma gangrenosum
tumor necrosis factorealfa inhibitors are considered
100
EBA link with which IBD—
inparticular CD, with 25 cases in the literature—and rarely with UC, with only 4 cases
101
bowel-associateddermatosis-arthritis syndrome
jejuonoileal bypass> conventional bariatric
| intervention > laparoscopic gastric bypass
102
Thelikely epitope responsible for immune
bowel-associated syndrome complex
formation in dermatosis-arthritis
Peptidoglycan
103
Incidence of HenocheSch€on-lein purpura associated with group Abeta-hemolytic Streptococcus infections
Only a minority of cases
104
Morphology of adult HenocheSch€onlein purpura cases
Bullous lesions are seen
105
What systemic manifestations of HenocheSchonleinpurpura responsive to glucocorticoid administration,
gastrointestinal, rheumatologic , skin manifestations and theprogression of nephritis to end stage renaldisease are unaffected
106
Whicg subclass of immunoglobulins responsible for the pathologic changes of HenocheSchonlein purpura
immunoglobulin A1
107
DH- time taken for improvement -skin, GIT, from Institution of a gluten-free diet
rapidimprovement of the gastrointestinal symp-toms of dermatitis herpetiformis, while skinmanifestations may take up to 2 years toresolve
108
Dermatitis herpetiformis is almost universally associated with human leukocyte, which are located on chromosome ?
DQ2 or DQ8, both of which are located on chromosome 6
109
Severity of villous atrophy of duodenum in patients with dermatitisherpetiformis compared to those with celiacdisease
villous atrophy of duodenum
| Is Generally milder in patients with dermatitisherpetiformis compared to those with celiacdisease
110
increased risk of malignancy, includingnon-Hodgkin lymphoma, in the dermatitisherpetiformis population?
No
111
Other tests for DH associations
Antithyroid peroxidase, thyroid-stimulating hormone, antigastric parietalcells, ANA, and anti-Ro
autoimmune disease
112
pathophysiology of Degos disease
Dysregulation of interferon-alfa
| membranolytic attack complex
113
Successful treatment with eculizumab, monoclonal antibody to complement protein C5, for?
Degos disease
114
GIT of HermanskyPudlak syndrome
granulomatous colitis , clinically like ulcerative colitis but is histologically more similar to Crohn’s disease
115
Which agent has been successful in the treat-ment of the colitis of HermanskyePudlaksyndrome
Infliximab
116
BLOC components and adaptor protein 3 involved in
| lysosomal functioning defective in
HermanskyePudlak syndrome
117
GIT management BRBN
Iron supplementation,
transfusion, endoscopic
coagulation, and resection(level IV)
118
EDS subtype in which gastrointestinal complications are a prominent feature, occurring in 19% of these patients
Type IV vascular type EhlerseDanlos syndrome
119
mutation in COL3A1 on chromosome 2q31 associated with
the vascular type EhlersDanlos syndrome
120
Classical (EDS I and II)
| Abnormal type ? collagen
type V
121
Which EDs subtype Skin laxity, velvet skin, joint
| hypermobility, and recurrentjoint dislocations
Type 3 hyper mobility
122
Which EDS has Abnormal type III collagen and present
Arterial rupture, easy bruising,
hypermobility of small joints,and varicose veins
Vascular (EDS IV)
123
Which EDS caused by AR, Deficiency of collagen lysyl hydroxylase-1.
Kyphoscoliosis (EDS VI)
124
Which EDS subtype Deficiency of chains in type I collagen
Arthroclasia type VII
125
Which EDS subtype Deficiency of enzyme in type I collagen
.Dermatosparaxis
126
Sagging redundant skin, soft,
doughy skin texture, easy
bruising, hernias, and prematurerupture of fetal membranes
Dermatosparaxis
127
pathognomonic ocular lesion for PXE
comet lesions,’’multiple small chorioretinal atrophies, Angioid streaks are not necessarily specific for PXE;
128
Kaposi sarcoma staining for
D2-40
LYVE-1
Lymphatic Endothelial cell origin
129
Casal’s necklace due to which vitamin deficiency
B3
130
Treatment for pellagra
500 mg nicotinamide or
| nicotinic acid a day forseveral weeks
131
defective Zip4 transporter causes?
acrodermatitis entero-pathica
132
When a diagnosis of acrodermatitis entero-pathica is suspected, investigations?
plasma zinc levels ,alkaline phosphatase level , which is a zinc-dependent enzyme and increases the sensitivity of detection
133
fillers: foreign body granuloma, with numerous multinucleated
giant cells around translucent particles of different sizes,
most of them showing a fusiform or oval shape
Poly-L-lactic acid
134
which filler is birefringent under polarized light examination.
Poly-L-lactic acid
135
fillers: foreign body reaction around
| many bluish round or oval particles packed together
Calcium hydroxylapatite
136
fillers: well circumscribed palisading granulomas.
Bovine collagen
137
which filler histopathologically,
granulomatous foreign body reaction, with abundant multinucleated giant cells surrounding an extracellular basophilic amorphous material,
hyaluronic acid gel
138
resorbable filler that induces tissue augmentation that lasts up to
at least 24 months
Poly-L-lactic acid
139
which filler microspheres stimulate almost no foreign body reaction and they appear bluish in color and round or oval in shape
CALCIUM HYDROXYLAPATITE
140
consists of recurrent lower extremity purpura, an elevated erythrocyte sedimen-tation rate ESR and polyclonal gammopathy.
Hypergammaglobulinemic purpura of Waldenstr€om (HGPW)
141
HGPW common serologic association,
Anti-Ro
antibodies
(SSA)
142
Underlying associated with this syndrome Hypergammaglobulinemic Waldenstr€om (HGPW)
Sj€ogren syndrome
143
pregnant patient with this condition HGPW would increased risk for
Intrauterine growth restriction,
| fetal heartblock, and fetal demise
144
HGPW Rx
Compression stockings, hydroxychloroquine, indomethacin
145
MTS is distinguished by the development of
at least 1 cutaneous sebaceousneoplasm (sebaceous adenoma, sebaceous epithe-lioma, sebaceous carcinoma) or multiple keratoacanthomas, at least 1 visceral neoplasm
146
Patients with MTS are at highest risk of what cancer
colorectal cancer, breast, genitourinary, neoplasms
147
oral physiologic pigmentation typically affect
the attached gingiva withrelative sparing of the free gingiva.
148
PJS malignant transformation of the polyps occurs in
2% to 3% ofcases.
149
extraintestinal malignancies of PJS
The Breast , testicles, and ovaries
150
diagnosis of exclusion and needs to be differentiated from other, more malignant systemic disorders, such as PJS.
Oral Pigmentation with or without pigmentation of thefingernails. The oral lesions present as black to brown macules commonly found on the hard palate,tongue, lips, and buccal mucosa. Associated mela-nonychia of the fingernails is observed in 50%
LaugiereHunziker syndrome
| LHS
151
Antimalarial drugs
Minocycline
Ketoconazole
Zidovudine to cause
oral melanosis
152
pathogenesis
| underlying physiologic hyperpigmentation ?
increase in number of melanocytesb. An increase in activity of melanocytes
153
pathophysiology of HISN
type III hypersensitivity reaction in which antigen antibody complexes are depos-ited in the dermal blood vessels. Immune complex activation and aggregationof platelets
154
Which method of assessment is used to estab-lish this diagnosis HISN
Clinical +_ skin biopsy specimen
155
HISN RX
Supportive treatment and discontinuation ofthe offending medication
156
classic skin finding in systemic amyloidosis ?
Pinch purpura
157
median survival time for patientswith light chain amyloidosis?
6 to 15 months
158
cylindromas
| malignant transformation
cylindrocarcinoma.
159
Unlike other forms of inflammatory arthritis, the arthropathy of MRH canbe identified by its characteristic joint space widening without
periosteal bone growth.
160
MRH .Immunohistochemical analysis
monocyte/macrophage origin
positive CD45 (leukocyte common antigen),CD68
negative for S-100
161
MRH major histocompatibility complex classII
human leukocyte antigen DR-1.
162
Multiple Angiofibromas , found in
tuberous sclerosus complex(TSC) MEN1.
163
Neutrophilic dermatosis of the dorsal hands (NDDH) test
Complete blood cell count—neutrophilia and leukocytosis, strong association with leukemia and myelodysplasia
164
First-line therapies for NDDH, Sweet syndrome, and atypical pyoderma gangrenosum
include antineutrophilic agents, such as systemic corticosteroids, topical and intralesional corticosteroids, colchicine, and low dose dapsone. cyclosporine, methotrexate, and potassium iodide.
