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Pathology > Head and neck dev disorders > Flashcards

Head and neck dev disorders Flashcards

1
Q

Congenital anomalies, these do not imply?

A

structural defects that are present
at birth . Congenital does not i mp l y
a genetic basis

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2
Q

malformation syndrome

A

refers to multiple congenital anomolies that result from a single causative condition that simultaneously affect several tissues

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3
Q

Se qu enc e re fe r s to?

A

multiple congenital abnormalities resulting from a single causative condition that produces a sequence of downstream effects

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4
Q

lethality? due to? aplasia of? ears?

AGNATHIA

A

Lethal
Failure of migration of neural crest mesenchyme
Aplasia of mandible
Ears fused in midline

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5
Q

micrognathia

A

hypoplastic man/max

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6
Q

micrognathia can occur with?

A

1.Cleidocranial Dysplasia-Marie-Sainton Disease
2.Craniofacial Dysplasia-Crouzon Syndrome
3.Mandibulofacial Dysplasia- Treacher Collins Syndrome
4.Pierre Robin Sequence

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7
Q

inheritence? mutation of what gene? gene role?

C LEIDOCRANIAL DYSOSTOSIS ,
M ARIE-SAINTON D IS EASE

A

 Autosomal dominant , but many cases are new mutations
 mutation to core binding factor A1gene at 6p21, controls osteoblast dif resulting in diffuse skeletal abnormalities
 CBFA1also plays a role in odontogenesis through effects on dental lamina prolif

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8
Q

CLEIDOCRANIAL DYSPLASIA/ MARIE-SAINTON DISEASE signs

A

 hypoplastic clavicles
 frontal bossing
 midface hypoplasia
 supernumerary teeth

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9
Q

inheritence, mutation to?

craniofacial dystosis/ crouzon syndrome

A

 AD
 mutation to FBGR2 at 10q

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10
Q

variable? sutures? midface? orbits?

CRANIOFACIAL DYSPLASIA/ crouzon syndrome signs

A

variable clinical app
 Craniosynostosis - premature closure of cranial sutures
 midface hypoplasia (maxilla)
 Proptosis - shallow orbits

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11
Q

RADIOGRAPHIC CHANGES IN
CRANIOFACIAL DYSPLASIA

A

 I n c rea sed d i git a l m a rki ngs
 “Beaten metal” pattern

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12
Q
A

beaten metal pattern of craniofacial dysplasia

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13
Q

inheritence? mutation? defects where?

MANDIBULOFACIAL DYSPLASIA
(MANDIBULOFACIAL DYSOSTOSIS,
TREACHER COLLINS SYNDROME)

A

 AD
 mutation to 5q31. 3-32
 defects to structures derived from 1st and 2nd branchial arches

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14
Q

MANDIBULOFACIAL DYSOSTOSIS,
TREACHER COLLINS SYNDROME) signs

A

 hypoplastic zygoma
 coloboma
 ear anomolies
 man hypoplasia

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15
Q

MANDIBULOFACIAL DYSPLASIA
(MANDIBULOFACIAL DYSOSTOSIS,
TREACHER COLLINS SYNDROME) palebral fissures

A

downward slanted

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16
Q

MANDIBULOFACIAL DYSPLASIA –
COLOBOMA OF LOWER EYELID

A

lack of eyelashes past this point

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17
Q

MANDIBULOFACIAL DYSPLASIA in subsequent generations

A

become more severe/ pronounced

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18
Q

PIERRE ROBIN SEQUENCE
(COMPLEX/SYNDROME) signs

A

1 . micrognathia
2 . cleft palate
3 . glossoptosis - tongue displacement

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19
Q

PIERRE ROBIN SEQUENCE
(COMPLEX/SYNDROME) sequence of events

A

1 . M a n d i b u l a r h y p o p l a s i a
2 . P a l a t a l c l e f t (failure of tongue to drop)
3 . G l o s s o p t o s i s

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20
Q

CLINICAL PROBLEMS IN PIERRE ROBIN SEQUENCE
Choking?
Feeding?
Breathing?
Ear?

A

Choking episodes
Feeding dif ficulties
Breathing dif ficulties
Ear infections

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21
Q

MACROGNATHIA pot. cause?

A

acromegaly

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22
Q

effects of lesion type

ACROMEGALY

A

 A f u nc t ional p i tu itar y
a d e noma p roduc es
exc es sive g rowt h
h o rmone s e c ret ion a f ter
c l osure o f e p iphy seal
p l ates
 S p ac e - oc c upying l e s ion:
▪ Hypopituitarism
▪ Visual field changes
▪ Headache

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23
Q

PHYSICAL FINDINGS IN ACROMEGALY

A

Progressive coarsening of
facial features
Enlarged nose
Mandibular prognathism
Sof t palate hyper trophy
Macroglossia
Growth of distal extremities

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24
Q
A

acromegaly

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25
Q

DEVELOPMENTAL DISORDERS
CAUSING FACIAL ASYMMETRY

A

 hemifacial hyperplasia
 hemifacial atrophy
 hemifacial microstomia
 condylar hyperplasia
segemental odontomaxillary hyperplasia - hemimaxillofacial dysplasia

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26
Q

HEMIFACIAL HYPERPLASIA
(FACIAL HEMIHYPERPLASIA )

A

 A s y mmet ri c ove rg rowth of one s i d e of t h e f ac e

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27
Q

genetic? presentation?

HEMIHYPERPLASIA

A

 sporadic, not hereditary
 timing of presentation variable

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28
Q

may involve? example?

HEMIFACIAL HYPERPLASIA

A

 may involve all tissues on affected side, including tongue, teeth, man canal
 unilateral macroglossia

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29
Q

PROGRESSIVE HEMIFACIAL ATROPHY
name? affects what region?

A

romberg syndrome
 unilateral atrophy of skin/soft tissue
 affects CNV dermatome

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30
Q

COURSE OF PROGRESSIVE
HEMIFACIAL ATROPHY

A

Begins in first two
decades, progresses
for several years, then
stabilizes
Requires only
cosmetic treatment

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31
Q

PROGRESSIVE HEMIFACIAL ATROPHY
“COUP DE SABRE”

A

presents as a sharp demarcation on the forehead sperating the affected and unaffected sides

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32
Q

HEMIFACIAL MICROSTOMIA due to?

A

Hypoplasia of one side of the face

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33
Q

CONDYLAR HYPERPLASIA

A

often idiopathic and unilateral and will present with angles occ plane and prognathism

34
Q
A

condylar hyperplasia

35
Q

cleft lip due to?

A

 lack of merging between the maxillary and medial nasal processes

36
Q

CLASSIFICATION OF CLEFT LIP

A
37
Q

degrees of palatal clefting

A
38
Q

T WO MAJOR GROUPINGS OF
OROFACIAL CLEFTS:

A

 C l ef t L i p w i t h a n d w i t hout C l e f t P a l ate ( C L + / - C P )
▪ Isolated Clef t lip
▪ Clef t lip associated with clef t palate

 I s olated C l ef t P al ate ( C P )
▪ Less common

39
Q

DISTRIBUTION OF CLEFTS

A

 5 0 % Cl e f t L i p an d Cl e f t
Pal ate
 2 5 % Cl e f t L i p al o n e
 2 5 % Cl e f t Pal ate al o n e

40
Q

COMPLICATIONS OF CLEFT PALATE

A

 palatal-pharyngeal incompetence
 hypernasal speech
 dental abnormalities in cleft area

41
Q

DOUBLE LIP (CUPID’S BOW)
forms?

A

Redundant fold of tissue
Congenital and acquired forms

42
Q

Ascher Syndrome signs

A

▪Blepharochalais (inflamm of eyelids)
▪Non-toxic thyroid enlargement

also presents with cupid bow

43
Q

COMMISSURAL LIP PITS

A

A blind tract resulting from incomplete
merging between the maxillar y and
mandibular processes
can produce saliva

44
Q

marker for what syndromes?

PARAMEDIAN LIP PITS

A

 blind tract result from defective merging within man process
 marker for cleft syndromes

45
Q

van der Woude syndrome
inheritance? signs?

A

AD, seen with CL w/o CP and paramedial lip pits

46
Q

post tongue papillae

A

circumvallate

47
Q

lat tongue papillae

A

foliate

48
Q

MICROGLOSSIA

A

ABNORMALLY SMALL TONGUE

49
Q

aglossia due to

A

aplasia

50
Q

mild microglossia

A

m ay b e d i f ficu lt to d etect a n d m ay g o
u n not ic ed

51
Q

microglossia can be associated with syndromes causing?

A

man hypoplasia

52
Q

types of causes of marcoglossia

A

congenital and acquired

53
Q

congential causes of macroglossia

A

 vascular malformations- lymphangioma/hermangioma
 down syndrome
 neurofibromatosis
 MEN

54
Q

ACQUIRED CAUSES OF
MACROGLOSSIA

A

 edentulism
 mm hypertrophy
 amyloidosis
 acromegaly

55
Q

ANKYLOGLOSSIA – “TONGUE-TIE”

A

 A s h o r t , t h i c k l i n g u a l f r e n u m l i m i t s m ov e m e n t o f t h e to n g u e

56
Q

tx of ankylglossia

A

frenectomy

57
Q

etiology, app, over time

ERY THEMA MIGRANS ,
BENIGN MIGRATORY GLOSSITIS –
GEOGRAPHIC TONGUE

A

 etiology unknown
 red areas of epithelial atrophy with elevated, white serpiginous border
 app changes over time

58
Q
A

benign migratory glossitis

59
Q
A

erythema migrans

60
Q

fissured tongues

A

usually not a problem, just collect debris (halitosis)

61
Q

MELKERSSON ROSENTHAL
SYNDROME

A

A form of orofacial
granulomatosis

62
Q

MELKERSSON ROSENTHAL
SYNDROME signs

A

1.Fissured tongue
2.Cheilitis granulomatosa
3.Facial paralysis

63
Q

CENTRAL PAPILLARY ATROPHY

A

 M e dian rh omboid g l os s itis
 S y mmet ric, e r y t hematous
a r e a o f a t rophy o f f i l liform
p ap il lae o f m i dli ne d o r sal
to ng ue
 N ot a d evelopment al l e s ion
▪ Tuberculum impar
 E r y t hematous c a nd idias is

64
Q

central papillary atrophy tx

A

antifungal (candidasis)

65
Q
A

central pap atrophy

66
Q

LINGUAL THYROID

A

Ectopic thyroid tissue in
posterior midline of
tongue
May lack thyroid tissue in
neck- do not remove without scan

67
Q

app? demo?

THRYOGLOSSAL DUCT CYST

A

 C y s t ic c h ange o f t hy rogloss al
t r ac t e p it helium
 M i dline o f n e c k i n yo u ng p e ople

68
Q

thyroglossal duct cyst histo

A

would have normal histo of a cyst but may also have thyroid follicles present

69
Q

app, location, demo

ORAL LYMPHOEPITHELIAL CYST

A

Cystic change of crypt epithelium of lymphoid aggregate
Young adults
Floor of mouth

70
Q

CERVICAL LYMPHOEPITHELIAL CYST
cyst of? app?

A

 branchial cleft cyst
 cystic change of the branchial epithelium
upper lateral neck, anterior to sternocleidomastoid mm in young adults

71
Q

CERVICAL LYMPHOEPITHELIAL CYST histo

A

 stratified squamous epithelium exhibiting lymphoid tissue with germinal centers in the wall

72
Q

when is dev stimed?

FORDYCE GRANULES

A

Ectopic sebaceous
glands
Development
stimulated at puber ty

73
Q
A

fordyce granules

74
Q

fordyce granule histo

A

identical to sebaceous glands

75
Q

GINGIVAL FIBROMATOSIS forms

A

 G e neralized
▪ Syndrome-associated
▪ Non-syndrome-associated – an isolated entity

 L o c al ized

76
Q
A

gingival fibromatosis

77
Q

inheritence, assocuated with risk of, oral/GI

PEUTZ-JEGHER SYNDROME

A

 A u t o s o m a l d o m i n a n t
 A s s o c i a t e d w i t h g e n e r a l i z e d i n c r e a s e d r i s k f o r m a l i g n a n c y
 O r a l a n d p e r i o r a l f r e c k l i n g –p r e s e n t i n i n f a n c y, f a d e s w i t h a g e
 G a s t r o i n t e s t i n a l
h a m a r to m a to u s p o l y p s –
i n t u s s u s c e p t i o n

78
Q

PORT WINE STAIN NEVUS

A

 vascular nevus- a hermatoma of capillaires
 Nevus flammeus (another name)

79
Q

presentation, which tissues, hereditary

STURGE WEBER SYNDROME

A

port wine nevus in CN V distribution
 encephalo-trigeminal angiomatosis - affects tissues of brain and face
 not hereditary

80
Q

STURGE WEBER SYNDROME at the brain

A

 Meningeal angiomatosis- tram -line calcifications
 convulsive disorders
 mental retardation

81
Q
A

strudge weber

82
Q

bilateral strudge weber possible?

A

yes, very severe form

Pathology (19 decks)

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