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

Buzz Oral/Eye/Ear/Nose Flashcards

(79 cards)

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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
Anterior subcapsular cataracts
Atopic dermatitis
26
Lester iris (hyperpigmentation around pupillary margin of iris)
Nail-patella syndrome
27
Heterochromia iridis (two different eye colors in same individual)
Waardenburg syndrome
28
Lisch nodules (pigmented hamartomatous nevi in iris)
Neurofibromatosis
29
Coloboma (defect in iris)
Goltz syndrome
30
Ectopia lentis (lens dislocation), downward
Homocystinuria
31
Ectopia lentis, upward
Marfan syndrome
32
Anterior uveitis, lacrimal gland enlargement with incr lacrimation
Sarcoidosis
33
Uveitis (anterior or posterior), glaucoma
Behcet’s disease
34
Angioid streaks
Pseudoxanthoma elasticum, lead poisoning
35
Congenital hypertrophy of retinal pigment epithelium (CHRPE)
Gardner syndrome
36
Retinitis pigmentosa (salt/pepper)
Cockayne syndrome, Refsum disease
37
Perifoveal glistening white dots in ocular fundus
Sjögren-Larsson syndrome
38
Retinal phakomas (hamartomas)
Tuberous sclerosis
39
Broad nasal bridge
Hyper-IgE syndrome
40
Bullous pear-shaped nose
Trichorhinophalangeal syndrome
41
Beaked nose
Rubenstein-Taybi syndrome, progeria
42
Circular depression (posterior rim of helices)
Beckwith-Wiedemann syndrome
43
Ear lobe crease
Beckwith-Wiedemann syndrome
44
Crumpled ears
Congenital contractural arachnodactyly
45
Calcification of falx cerebri
Gorlin syndrome
46
Calcification of basal ganglia
Tuberous sclerosis, Gorlin syndrome, Cockayne syndrome
47
Calcification of dura (at tentorium and choroid attachments)
Papillon-Lefèvre syndrome
48
Calcification of hippocampus and amygdala
Lipoid proteinosis
49
Tram-track calcification (due to vascular malformations in cortex)
Sturge-Weber syndrome
50
Occipital exostoses (horns)
Occipital horn syndrome, Menkes disease
51
Thickening of calvarium
Hidrotic ectodermal dysplasia (Clouston), tuberous sclerosis
52
Radiolucent ‘punched out’ osteolytic lesions often on skull
Multiple myeloma
53
Solitary or multiple ‘punched out’ lesions, ± sclerotic rim (skull, mandible, humerus, femur, rib)
Eosinophilic granuloma (form of Langerhans cell histiocytosis)
54
Wormian bones (additional intrasutural bones within skull)
Osteogenesis imperfecta, Menkes disease
55
Dysplasia of sphenoid wing (skull bone)
Neurofibromatosis I
56
Cranial and external auditory canal hyperostosis
Proteus syndrome
57
Beaded ribs
Osteogenesis imperfecta
58
Bifid (bifurcated) ribs
Gorlin syndrome
59
Supernumerary vertebrae
Incontinentia pigmenti
60
Osteopoikilosis (numerous sclerotic foci in long bones)
Buschke-Ollendorf syndrome
61
Osteopathia striata (prominent vertical striations near epiphyses/metaphyses in long bones)
Goltz syndrome
62
Melorheostosis (thickening of bony cortex like ‘dripping candle wax’)
Linear scleroderma
63
Ehrlenmeyer flask deformity of femoral mid-shaft
Gaucher disease
64
Cone-shaped epiphysis
Trichorhinophalangeal syndrome
65
Stippled epiphyses or chondrodysplasia punctata (punctate calcifications within epiphyseal cartilage)
CHILD syndrome, Conradi-Hünermann syndrome
66
Absent radii
Fanconi anemia
67
Hypoplastic radii, ulnae and/or thumbs
Rothmund-Thomson syndrome
68
Radial head subluxation
Nail-patella syndrome
69
Broad thumbs
Rubinstein-Taybi syndrome
70
Hypoplastic thumbs
Rothmund-Thomson syndrome
71
Short 4th metacarpal
Albright’s hereditary osteodystrophy
72
Clindactyly
Cornelia de Lange syndrome, Russell-Silver syndrome
73
Thickened scapulae
Nail-patella syndrome
74
Absent patella
Nail-patella syndrome
75
Sclerotic focal bone lesions
POEMS syndrome
76
Iliac exostoses (posterior iliac horns)
Nail-patella syndrome
77
Dysostosis multiplex (characteristic skeletal abnormalities)
Mucopolysaccharidosis (MPS) disorders
78
Resorption of distal phalanges
Scleroderma, Haim-Munk syndrome
79
Tufting of terminal phalanges
Hidrotic ectodermal dysplasia (Clouston)

Medical Derm Revision (51 decks)

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