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Head and neck dev disorders Flashcards

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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
DEVELOPMENTAL DISORDERS CAUSING FACIAL ASYMMETRY
 hemifacial hyperplasia  hemifacial atrophy  hemifacial microstomia  condylar hyperplasia segemental odontomaxillary hyperplasia - hemimaxillofacial dysplasia
26
HEMIFACIAL HYPERPLASIA (FACIAL HEMIHYPERPLASIA )
 A s y mmet ri c ove rg rowth of one s i d e of t h e f ac e
27
# genetic? presentation? HEMIHYPERPLASIA
 sporadic, not hereditary  timing of presentation variable
28
# may involve? example? HEMIFACIAL HYPERPLASIA
 may involve all tissues on affected side, including tongue, teeth, man canal  unilateral macroglossia
29
PROGRESSIVE HEMIFACIAL ATROPHY name? affects what region?
romberg syndrome  unilateral atrophy of skin/soft tissue  affects CNV dermatome
30
COURSE OF PROGRESSIVE HEMIFACIAL ATROPHY
Begins in first two decades, progresses for several years, then stabilizes Requires only cosmetic treatment
31
PROGRESSIVE HEMIFACIAL ATROPHY “COUP DE SABRE”
presents as a sharp demarcation on the forehead sperating the affected and unaffected sides
32
HEMIFACIAL MICROSTOMIA due to?
Hypoplasia of one side of the face
33
CONDYLAR HYPERPLASIA
often idiopathic and unilateral and will present with angles occ plane and prognathism
34
condylar hyperplasia
35
cleft lip due to?
 lack of merging between the maxillary and medial nasal processes
36
CLASSIFICATION OF CLEFT LIP
37
degrees of palatal clefting
38
T WO MAJOR GROUPINGS OF OROFACIAL CLEFTS:
 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
DISTRIBUTION OF CLEFTS
 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
COMPLICATIONS OF CLEFT PALATE
 palatal-pharyngeal incompetence  hypernasal speech  dental abnormalities in cleft area
41
DOUBLE LIP (CUPID’S BOW) forms?
Redundant fold of tissue Congenital and acquired forms
42
Ascher Syndrome signs
▪Blepharochalais (inflamm of eyelids) ▪Non-toxic thyroid enlargement also presents with cupid bow
43
COMMISSURAL LIP PITS
A blind tract resulting from incomplete merging between the maxillar y and mandibular processes can produce saliva
44
# marker for what syndromes? PARAMEDIAN LIP PITS
 blind tract result from defective merging within man process  marker for cleft syndromes
45
van der Woude syndrome inheritance? signs?
AD, seen with CL w/o CP and paramedial lip pits
46
post tongue papillae
circumvallate
47
lat tongue papillae
foliate
48
MICROGLOSSIA
ABNORMALLY SMALL TONGUE
49
aglossia due to
aplasia
50
mild microglossia
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
microglossia can be associated with syndromes causing?
man hypoplasia
52
types of causes of marcoglossia
congenital and acquired
53
congential causes of macroglossia
 vascular malformations- lymphangioma/hermangioma  down syndrome  neurofibromatosis  MEN
54
ACQUIRED CAUSES OF MACROGLOSSIA
 edentulism  mm hypertrophy  amyloidosis  acromegaly
55
ANKYLOGLOSSIA – “TONGUE-TIE”
 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
tx of ankylglossia
frenectomy
57
# etiology, app, over time ERY THEMA MIGRANS , BENIGN MIGRATORY GLOSSITIS – GEOGRAPHIC TONGUE
 etiology unknown  red areas of epithelial atrophy with elevated, white serpiginous border  app changes over time
58
benign migratory glossitis
59
erythema migrans
60
fissured tongues
usually not a problem, just collect debris (halitosis)
61
MELKERSSON ROSENTHAL SYNDROME
A form of orofacial granulomatosis
62
MELKERSSON ROSENTHAL SYNDROME signs
1.Fissured tongue 2.Cheilitis granulomatosa 3.Facial paralysis
63
CENTRAL PAPILLARY ATROPHY
 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
central papillary atrophy tx
antifungal (candidasis)
65
central pap atrophy
66
LINGUAL THYROID
Ectopic thyroid tissue in posterior midline of tongue May lack thyroid tissue in neck- do not remove without scan
67
# app? demo? THRYOGLOSSAL DUCT CYST
 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
thyroglossal duct cyst histo
would have normal histo of a cyst but may also have thyroid follicles present
69
# app, location, demo ORAL LYMPHOEPITHELIAL CYST
Cystic change of crypt epithelium of lymphoid aggregate Young adults Floor of mouth
70
CERVICAL LYMPHOEPITHELIAL CYST cyst of? app?
 branchial cleft cyst  cystic change of the branchial epithelium upper lateral neck, anterior to sternocleidomastoid mm in young adults
71
CERVICAL LYMPHOEPITHELIAL CYST histo
 stratified squamous epithelium exhibiting lymphoid tissue with germinal centers in the wall
72
# when is dev stimed? FORDYCE GRANULES
Ectopic sebaceous glands Development stimulated at puber ty
73
fordyce granules
74
fordyce granule histo
identical to sebaceous glands
75
GINGIVAL FIBROMATOSIS forms
 G e neralized ▪ Syndrome-associated ▪ Non-syndrome-associated – an isolated entity  L o c al ized
76
gingival fibromatosis
77
# inheritence, assocuated with risk of, oral/GI PEUTZ-JEGHER SYNDROME
 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
PORT WINE STAIN NEVUS
 vascular nevus- a hermatoma of capillaires  Nevus flammeus (another name)
79
# presentation, which tissues, hereditary STURGE WEBER SYNDROME
port wine nevus in CN V distribution  encephalo-trigeminal angiomatosis - affects tissues of brain and face  not hereditary
80
STURGE WEBER SYNDROME at the brain
 Meningeal angiomatosis- tram -line calcifications  convulsive disorders  mental retardation
81
strudge weber
82
bilateral strudge weber possible?
yes, very severe form

Pathology (20 decks)

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