Buzzwords Flashcards

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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
Q

Anterior subcapsular cataracts

A

Atopic dermatitis

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26
Q

Lester Iris (hyperpigmentation around pupillary margin of the iris)

A

Nail-Patella syndrome

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27
Q

Heterochromia iridis

A

Waardenburg syndrome (two different eye colors in the same individual)

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28
Q

Lisch nodules (pigmented hamartomatous nevi in iris)

A

Neurofibromatosis

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29
Q

Coloboma

A

Goltz

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30
Q

Ectopia lentis, downward

A

Homocystenuria

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31
Q

Ectopia lentis, upward

A

Marfan

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32
Q

Anterior uveitis, lacrimal gland enlargement with increased lacrimation

A

Sarcoidosis

33
Q

Posterior uveitis (can be anterior too)

A

Bechets

34
Q

Angiod streaks

A

PXE, Lead poisoning

35
Q

Congenital hypertrophy of retinal pigment epithelium (CHRPE)

A

Gardner Syndrome

36
Q

Retinitis pigmentosa (salt/pepper)

A

Cockayne, Refsum

37
Q

Perifovial glistening white dots in ocular fundus

A

Sjogren-Larsson syndrome

38
Q

Retinal phakomas (hamartomas)

A

Tuberous sclerosis

39
Q

Giant cell epulides

A

Cherubim (SH3BP2)

40
Q

Broad nasal bridge

A

Hyper IgE (Job syndrome)

41
Q

Bullous pear-shaped nose

A

Trichorhinophalanegeal syndrome

42
Q

Beaked nose

A

Rubinstein-Taybi syndrome

Progeria

43
Q

Circular depression in the posterior rim of helices

A

Beckwidth Wiedemann syndrome

44
Q

Ear lobe creases

A

Beck-width Wiedmann syndrome

45
Q

Crumpled ears

A

Congenital contractural arachnodactyly

46
Q

Lutzomyia verrucarum

A

Sandfly- Oroya fever (Bartonella bacilliformis)

47
Q

Lutzomyia spp. Phlebotomus spp.

Sandfly

A

Leishmaniasis

48
Q

Reduvid bug

A

Chagas’ disease (Trypanosoma Cruzi)

49
Q

Xenopsylla cheopis (rat flea)

A
Plaque (Yersinia pestis)
Endemic Typhus (Rickettsia typhi)
50
Q

Ctenocephalides Felis (cat flea)

A

Cat scratch disease (Bartonella henselae)

51
Q

Chrysoprase, family Tabanidae (deer fly)

A

Tularemia (Francisella tularenisis)

52
Q

Pustulo-ovoid bodies

A

Granular Cell tumor

53
Q

Malignancy in Gorlin

A

Medulloblastoma
Fibrosarcomas
Ovarian fibromas

54
Q

Increased risk of medulloblastoma in what genoderm

A

Gorlin

*also increased risk of ovarian fibroma and fibrosarc

55
Q

Cancer a/w Bloom syndrome

A

Leukemia or GI carcinoma

56
Q

What cancers are a/w Birt Hogg Dube

A

Renal
Thyroid (medullary)
Colon CA
*fibrofolliculomas

57
Q

Follicular thyroid, breast, colon CA risk a/w what genoderm?

A

Cowden

58
Q

Cancers a/w Cowden syndrome

A

Follicular thyroid
Breast
Colon

59
Q

What type of cancer a/w maffucci?

A

Chondrosarcoma

Endochondromas

60
Q

Chondrosarcoma
Endochondroma

A/w what genoderm?

A

Mafuccii

61
Q

Supranumerary teeth
Colon CA

What genoderm?

A

Gardener syndrome

62
Q

Medullary thyroid

Mucosal neuromas

A

MEN 2B

63
Q

Tuberous sclerosis a/w increased risk of what CA

A

Renal Cell CA

64
Q

Increased risk of OSTEOSARCOMA

A

Rothmund-Thomson syndrome

65
Q

Rothmund-Thompson syndrome a/w increased risk of what CA?

A

Osteosarcoma

66
Q

Broad thumbs

A

Rubinstein Taybi syndrome

67
Q

Radiologic finding in Rubinstein-Taybi

A

Broad thumbs

68
Q

Broad thumbs

Hypoplastic thumbs

A

Broad thumbs - Rubinstein-Taybi

Hypoplastic thumbs - Rothmund Thompson

69
Q

Thickened scapula

A

Nail Patella Syndrome

*also have absent patella, also Iliac exostoses (posterior iliac horns)

70
Q

Iliac exostoses (posterior iliac horns)

A

Nail Patella

71
Q

Sclerotic focal bone lesions

A

POEMS syndrome

72
Q

Clinodactyly

A

Cornelia de Lange

Russel Silver

73
Q

Short 4th metacarpal

A

Albright hereditary osteodystrophy

74
Q

Resorption of distal phalanges

A

Scleroderma

Haim Munk

75
Q

Tufting of terminal phalanges

A

Hidrotic ectodermal dysplasia (Clouston)

76
Q

Vector: Lutzomyia verrucarum

A

Lutzomyia verrucarum (sandfly) is the vector for:

Oroya fever (bartonella bacilliformis)

*New world leishmaniasis is Lutzomyia spp. (Phlebotomus spp)

77
Q

Vector: Xenopsylla cheopis

A

Xenopsylla cheopis (rat flea) is the vector for:

Plague (Yersinia persist)
Endemic typhus (Rickettsia typhi)
78
Q

Whorled corneal opacities

A

Fabrys

Whorled corneal opacities = cornea verticcillata