Buzzwords Flashcards

(78 cards)

1
Q

Premalignant leukoplakia

A

Dyskeratosis Congenita

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2
Q

Benign oral leukoplakia

A

Pachyonychia congenita type I

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3
Q

Cobblestoning of oral mucosa

A

Cowden syndrome, chrons, Darier

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4
Q

Anodontia

A

Hypomelanosis of Ito
IP
Hypohidrotic ectodermal dysplasia

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5
Q

Pegged teeth

A

IP

All ectodermal dysplasias

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6
Q

Natal teeth

A

Pachyonychia congenita type 2

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7
Q

Retention of primary teeth

A

HyperIgE

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8
Q

Supranumerary teeth (polydontia)

A

Gardner syndrome

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9
Q

Erythrodontia (red colored teeth)

A

CEP (Congenital erythropoietic porphyria

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10
Q

Enamel hypoplasia (enamel pits)

A

TS, Junctional EB, Sjogren-Larsson

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11
Q

Staining of teeth

A

Tetracycline gingival 1/3, Minocycline middle 1/3

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12
Q

Centrally notched upper incisors

A

Congenital syphilis *these are Hutchison’s teeth

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13
Q

Periodontitis with with early tooth loss

A

Papillon-Lefevre syndrome, Haim-Munk syndrome

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14
Q

Floating teeth

A

Lettered-Siwe disease (LCH) *this is a disseminated form of LCH and on radiographs the teeth appear to be “floating away” because of such diffuse involvement :(

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15
Q

Mucocutaneous papillomas and pits

A

Focal dermal hypoplasia (Goltz)

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16
Q

Mucosal neuromas and rubbery lips

A

MEN2B

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17
Q

Oral fibromas

A

Tuberous Sclerosis, Birt-Hogg-Dube

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18
Q

Odotogenic cysts

A

Gardner syndrome, Gorlin syndrome

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19
Q

Macroglossia

A

Beckwith-Wiedemann Syndrome

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20
Q

Comma shaped corneal opacities

A

X-linked ichthyosis

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21
Q

Whorl-like corneal opacities

A

Fabry disease

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22
Q

Keratoconus

A

Atopic derm, Down syndrome (gradual bulging from normal round shape to cone shaped)

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23
Q

Painful keratitis, dendritic corneal ulcers(pseudoherpetic)

A

Richter-Hanhart Syndrome

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24
Q

Photophobia, keratitis, neovascularization, eventual blindness

A

KID syndrome

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25
Anterior subcapsular cataracts
Atopic dermatitis
26
Lester Iris (hyperpigmentation around pupillary margin of the iris)
Nail-Patella syndrome
27
Heterochromia iridis
Waardenburg syndrome (two different eye colors in the same individual)
28
Lisch nodules (pigmented hamartomatous nevi in iris)
Neurofibromatosis
29
Coloboma
Goltz
30
Ectopia lentis, downward
Homocystenuria
31
Ectopia lentis, upward
Marfan
32
Anterior uveitis, lacrimal gland enlargement with increased lacrimation
Sarcoidosis
33
Posterior uveitis (can be anterior too)
Bechets
34
Angiod streaks
PXE, Lead poisoning
35
Congenital hypertrophy of retinal pigment epithelium (CHRPE)
Gardner Syndrome
36
Retinitis pigmentosa (salt/pepper)
Cockayne, Refsum
37
Perifovial glistening white dots in ocular fundus
Sjogren-Larsson syndrome
38
Retinal phakomas (hamartomas)
Tuberous sclerosis
39
Giant cell epulides
Cherubim (SH3BP2)
40
Broad nasal bridge
Hyper IgE (Job syndrome)
41
Bullous pear-shaped nose
Trichorhinophalanegeal syndrome
42
Beaked nose
Rubinstein-Taybi syndrome | Progeria
43
Circular depression in the posterior rim of helices
Beckwidth Wiedemann syndrome
44
Ear lobe creases
Beck-width Wiedmann syndrome
45
Crumpled ears
Congenital contractural arachnodactyly
46
Lutzomyia verrucarum
Sandfly- Oroya fever (Bartonella bacilliformis)
47
Lutzomyia spp. Phlebotomus spp. | Sandfly
Leishmaniasis
48
Reduvid bug
Chagas' disease (Trypanosoma Cruzi)
49
Xenopsylla cheopis (rat flea)
``` Plaque (Yersinia pestis) Endemic Typhus (Rickettsia typhi) ```
50
Ctenocephalides Felis (cat flea)
Cat scratch disease (Bartonella henselae)
51
Chrysoprase, family Tabanidae (deer fly)
Tularemia (Francisella tularenisis)
52
Pustulo-ovoid bodies
Granular Cell tumor
53
Malignancy in Gorlin
Medulloblastoma Fibrosarcomas Ovarian fibromas
54
Increased risk of medulloblastoma in what genoderm
Gorlin *also increased risk of ovarian fibroma and fibrosarc
55
Cancer a/w Bloom syndrome
Leukemia or GI carcinoma
56
What cancers are a/w Birt Hogg Dube
Renal Thyroid (medullary) Colon CA *fibrofolliculomas
57
Follicular thyroid, breast, colon CA risk a/w what genoderm?
Cowden
58
Cancers a/w Cowden syndrome
Follicular thyroid Breast Colon
59
What type of cancer a/w maffucci?
Chondrosarcoma | Endochondromas
60
Chondrosarcoma Endochondroma A/w what genoderm?
Mafuccii
61
Supranumerary teeth Colon CA What genoderm?
Gardener syndrome
62
Medullary thyroid | Mucosal neuromas
MEN 2B
63
Tuberous sclerosis a/w increased risk of what CA
Renal Cell CA
64
Increased risk of OSTEOSARCOMA
Rothmund-Thomson syndrome
65
Rothmund-Thompson syndrome a/w increased risk of what CA?
Osteosarcoma
66
Broad thumbs
Rubinstein Taybi syndrome
67
Radiologic finding in Rubinstein-Taybi
Broad thumbs
68
Broad thumbs Hypoplastic thumbs
Broad thumbs - Rubinstein-Taybi Hypoplastic thumbs - Rothmund Thompson
69
Thickened scapula
Nail Patella Syndrome *also have absent patella, also Iliac exostoses (posterior iliac horns)
70
Iliac exostoses (posterior iliac horns)
Nail Patella
71
Sclerotic focal bone lesions
POEMS syndrome
72
Clinodactyly
Cornelia de Lange | Russel Silver
73
Short 4th metacarpal
Albright hereditary osteodystrophy
74
Resorption of distal phalanges
Scleroderma | Haim Munk
75
Tufting of terminal phalanges
Hidrotic ectodermal dysplasia (Clouston)
76
Vector: Lutzomyia verrucarum
Lutzomyia verrucarum (sandfly) is the vector for: Oroya fever (bartonella bacilliformis) *New world leishmaniasis is Lutzomyia spp. (Phlebotomus spp)
77
Vector: Xenopsylla cheopis
Xenopsylla cheopis (rat flea) is the vector for: ``` Plague (Yersinia persist) Endemic typhus (Rickettsia typhi) ```
78
Whorled corneal opacities
Fabrys Whorled corneal opacities = cornea verticcillata