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Medical Derm Revision > Buzz Oral/Eye/Ear/Nose > Flashcards

Buzz Oral/Eye/Ear/Nose Flashcards

1
Q

Premalignant oral leukoplakia

A

Dyskeratosis congenita

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2
Q

Benign oral leukoplakia

A

Pachyonychia congenita type 1

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3
Q

Cobblestoning of oral mucosa

A

Cowden syndrome, Crohn’s disease

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4
Q

Anodontia

A

Hypomelanosis of Ito, incontinentia pigmenti, hypohidrotic ectodermal dysplasia

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5
Q

Pegged teeth

A

Ectodermal dysplasias (i.e. hypohidrotic ED), incontinentia pigmenti

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6
Q

Natal teeth

A

Pachyonychia congenita type 2

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7
Q

Retention of primary teeth

A

Hyper-IgE syndrome

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8
Q

Supernumerary teeth (polydontia)

A

Gardner syndrome

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9
Q

Red-colored teeth (erythrodontia)

A

Congenital erythropoietic porphyria

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10
Q

Staining of teeth

A

TCN (gingival 1/3), MCN (middle 1/3)

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11
Q

Enamel hypoplasia (including enamel pits)

A

Sjögren-Larsson syndrome, tuberous sclerosis, junctional epidermolysis bullosa

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12
Q

Centrally notched upper incisors

A

Congenital syphilis

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13
Q

Periodontitis with early tooth loss

A

Papillon-Lefèvre syndrome, Haim-Munk syndrome

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14
Q

Floating teeth

A

Letterer-Siwe disease (LCH)

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15
Q

Mucocutaneous papillomas and pits

A

Focal dermal hypoplasia

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16
Q

Mucosal neuromas (± rubbery lips)

A

MEN 2b (also known as MEN 3)

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17
Q

Oral fibromas

A

Tuberous sclerosis, Birt-Hogg-Dubé syndrome

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18
Q

Odontogenic cysts

A

Gardner syndrome, nevoid basal cell carcinoma 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 (gradual bulging from normal round shape to cone shape)

A

Down syndrome, atopic dermatitis

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23
Q

Painful keratitis, dendritic corneal ulcers (pseudoherpetic)

A

Richner-Hanhart syndrome

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24
Q

Photophobia, keratitis, neovasculariziation, 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 iris)

A

Nail-patella syndrome

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27
Q

Heterochromia iridis (two different eye colors in same individual)

A

Waardenburg syndrome

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28
Q

Lisch nodules (pigmented hamartomatous nevi in iris)

A

Neurofibromatosis

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29
Q

Coloboma (defect in iris)

A

Goltz syndrome

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30
Q

Ectopia lentis (lens dislocation), downward

A

Homocystinuria

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31
Q

Ectopia lentis, upward

A

Marfan syndrome

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32
Q

Anterior uveitis, lacrimal gland enlargement with incr lacrimation

A

Sarcoidosis

33
Q

Uveitis (anterior or posterior), glaucoma

A

Behcet’s disease

34
Q

Angioid streaks

A

Pseudoxanthoma elasticum, lead poisoning

35
Q

Congenital hypertrophy of retinal pigment epithelium (CHRPE)

A

Gardner syndrome

36
Q

Retinitis pigmentosa (salt/pepper)

A

Cockayne syndrome, Refsum disease

37
Q

Perifoveal glistening white dots in ocular fundus

A

Sjögren-Larsson syndrome

38
Q

Retinal phakomas (hamartomas)

A

Tuberous sclerosis

39
Q

Broad nasal bridge

A

Hyper-IgE syndrome

40
Q

Bullous pear-shaped nose

A

Trichorhinophalangeal syndrome

41
Q

Beaked nose

A

Rubenstein-Taybi syndrome, progeria

42
Q

Circular depression (posterior rim of helices)

A

Beckwith-Wiedemann syndrome

43
Q

Ear lobe crease

A

Beckwith-Wiedemann syndrome

44
Q

Crumpled ears

A

Congenital contractural arachnodactyly

45
Q

Calcification of falx cerebri

A

Gorlin syndrome

46
Q

Calcification of basal ganglia

A

Tuberous sclerosis, Gorlin syndrome, Cockayne syndrome

47
Q

Calcification of dura (at tentorium and choroid attachments)

A

Papillon-Lefèvre syndrome

48
Q

Calcification of hippocampus and amygdala

A

Lipoid proteinosis

49
Q

Tram-track calcification (due to vascular malformations in cortex)

A

Sturge-Weber syndrome

50
Q

Occipital exostoses (horns)

A

Occipital horn syndrome, Menkes disease

51
Q

Thickening of calvarium

A

Hidrotic ectodermal dysplasia (Clouston), tuberous sclerosis

52
Q

Radiolucent ‘punched out’ osteolytic lesions often on skull

A

Multiple myeloma

53
Q

Solitary or multiple ‘punched out’ lesions, ± sclerotic rim (skull, mandible, humerus, femur, rib)

A

Eosinophilic granuloma (form of Langerhans cell histiocytosis)

54
Q

Wormian bones (additional intrasutural bones within skull)

A

Osteogenesis imperfecta, Menkes disease

55
Q

Dysplasia of sphenoid wing (skull bone)

A

Neurofibromatosis I

56
Q

Cranial and external auditory canal hyperostosis

A

Proteus syndrome

57
Q

Beaded ribs

A

Osteogenesis imperfecta

58
Q

Bifid (bifurcated) ribs

A

Gorlin syndrome

59
Q

Supernumerary vertebrae

A

Incontinentia pigmenti

60
Q

Osteopoikilosis (numerous sclerotic foci in long bones)

A

Buschke-Ollendorf syndrome

61
Q

Osteopathia striata (prominent vertical striations near epiphyses/metaphyses in long bones)

A

Goltz syndrome

62
Q

Melorheostosis (thickening of bony cortex like ‘dripping candle wax’)

A

Linear scleroderma

63
Q

Ehrlenmeyer flask deformity of femoral mid-shaft

A

Gaucher disease

64
Q

Cone-shaped epiphysis

A

Trichorhinophalangeal syndrome

65
Q

Stippled epiphyses or chondrodysplasia punctata (punctate calcifications within epiphyseal cartilage)

A

CHILD syndrome, Conradi-Hünermann syndrome

66
Q

Absent radii

A

Fanconi anemia

67
Q

Hypoplastic radii, ulnae and/or thumbs

A

Rothmund-Thomson syndrome

68
Q

Radial head subluxation

A

Nail-patella syndrome

69
Q

Broad thumbs

A

Rubinstein-Taybi syndrome

70
Q

Hypoplastic thumbs

A

Rothmund-Thomson syndrome

71
Q

Short 4th metacarpal

A

Albright’s hereditary osteodystrophy

72
Q

Clindactyly

A

Cornelia de Lange syndrome, Russell-Silver syndrome

73
Q

Thickened scapulae

A

Nail-patella syndrome

74
Q

Absent patella

A

Nail-patella syndrome

75
Q

Sclerotic focal bone lesions

A

POEMS syndrome

76
Q

Iliac exostoses (posterior iliac horns)

A

Nail-patella syndrome

77
Q

Dysostosis multiplex (characteristic skeletal abnormalities)

A

Mucopolysaccharidosis (MPS) disorders

78
Q

Resorption of distal phalanges

A

Scleroderma, Haim-Munk syndrome

79
Q

Tufting of terminal phalanges

A

Hidrotic ectodermal dysplasia (Clouston)

Medical Derm Revision (51 decks)

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