Head and neck dev disorders Flashcards
Congenital anomalies, these do not imply?
structural defects that are present
at birth . Congenital does not i mp l y
a genetic basis
malformation syndrome
refers to multiple congenital anomolies that result from a single causative condition that simultaneously affect several tissues
Se qu enc e re fe r s to?
multiple congenital abnormalities resulting from a single causative condition that produces a sequence of downstream effects
lethality? due to? aplasia of? ears?
AGNATHIA
Lethal
Failure of migration of neural crest mesenchyme
Aplasia of mandible
Ears fused in midline
micrognathia
hypoplastic man/max
micrognathia can occur with?
1.Cleidocranial Dysplasia-Marie-Sainton Disease
2.Craniofacial Dysplasia-Crouzon Syndrome
3.Mandibulofacial Dysplasia- Treacher Collins Syndrome
4.Pierre Robin Sequence
inheritence? mutation of what gene? gene role?
C LEIDOCRANIAL DYSOSTOSIS ,
M ARIE-SAINTON D IS EASE
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
CLEIDOCRANIAL DYSPLASIA/ MARIE-SAINTON DISEASE signs
hypoplastic clavicles
frontal bossing
midface hypoplasia
supernumerary teeth
inheritence, mutation to?
craniofacial dystosis/ crouzon syndrome
AD
mutation to FBGR2 at 10q
variable? sutures? midface? orbits?
CRANIOFACIAL DYSPLASIA/ crouzon syndrome signs
variable clinical app
Craniosynostosis - premature closure of cranial sutures
midface hypoplasia (maxilla)
Proptosis - shallow orbits
RADIOGRAPHIC CHANGES IN
CRANIOFACIAL DYSPLASIA
I n c rea sed d i git a l m a rki ngs
“Beaten metal” pattern
beaten metal pattern of craniofacial dysplasia
inheritence? mutation? defects where?
MANDIBULOFACIAL DYSPLASIA
(MANDIBULOFACIAL DYSOSTOSIS,
TREACHER COLLINS SYNDROME)
AD
mutation to 5q31. 3-32
defects to structures derived from 1st and 2nd branchial arches
MANDIBULOFACIAL DYSOSTOSIS,
TREACHER COLLINS SYNDROME) signs
hypoplastic zygoma
coloboma
ear anomolies
man hypoplasia
MANDIBULOFACIAL DYSPLASIA
(MANDIBULOFACIAL DYSOSTOSIS,
TREACHER COLLINS SYNDROME) palebral fissures
downward slanted
MANDIBULOFACIAL DYSPLASIA –
COLOBOMA OF LOWER EYELID
lack of eyelashes past this point
MANDIBULOFACIAL DYSPLASIA in subsequent generations
become more severe/ pronounced
PIERRE ROBIN SEQUENCE
(COMPLEX/SYNDROME) signs
1 . micrognathia
2 . cleft palate
3 . glossoptosis - tongue displacement
PIERRE ROBIN SEQUENCE
(COMPLEX/SYNDROME) sequence of events
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
CLINICAL PROBLEMS IN PIERRE ROBIN SEQUENCE
Choking?
Feeding?
Breathing?
Ear?
Choking episodes
Feeding dif ficulties
Breathing dif ficulties
Ear infections
MACROGNATHIA pot. cause?
acromegaly
effects of lesion type
ACROMEGALY
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
PHYSICAL FINDINGS IN ACROMEGALY
Progressive coarsening of
facial features
Enlarged nose
Mandibular prognathism
Sof t palate hyper trophy
Macroglossia
Growth of distal extremities
acromegaly
DEVELOPMENTAL DISORDERS
CAUSING FACIAL ASYMMETRY
hemifacial hyperplasia
hemifacial atrophy
hemifacial microstomia
condylar hyperplasia
segemental odontomaxillary hyperplasia - hemimaxillofacial dysplasia
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
genetic? presentation?
HEMIHYPERPLASIA
sporadic, not hereditary
timing of presentation variable
may involve? example?
HEMIFACIAL HYPERPLASIA
may involve all tissues on affected side, including tongue, teeth, man canal
unilateral macroglossia
PROGRESSIVE HEMIFACIAL ATROPHY
name? affects what region?
romberg syndrome
unilateral atrophy of skin/soft tissue
affects CNV dermatome
COURSE OF PROGRESSIVE
HEMIFACIAL ATROPHY
Begins in first two
decades, progresses
for several years, then
stabilizes
Requires only
cosmetic treatment
PROGRESSIVE HEMIFACIAL ATROPHY
“COUP DE SABRE”
presents as a sharp demarcation on the forehead sperating the affected and unaffected sides
HEMIFACIAL MICROSTOMIA due to?
Hypoplasia of one side of the face
CONDYLAR HYPERPLASIA
often idiopathic and unilateral and will present with angles occ plane and prognathism
condylar hyperplasia
cleft lip due to?
lack of merging between the maxillary and medial nasal processes
CLASSIFICATION OF CLEFT LIP
degrees of palatal clefting
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
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
COMPLICATIONS OF CLEFT PALATE
palatal-pharyngeal incompetence
hypernasal speech
dental abnormalities in cleft area
DOUBLE LIP (CUPID’S BOW)
forms?
Redundant fold of tissue
Congenital and acquired forms
Ascher Syndrome signs
▪Blepharochalais (inflamm of eyelids)
▪Non-toxic thyroid enlargement
also presents with cupid bow
COMMISSURAL LIP PITS
A blind tract resulting from incomplete
merging between the maxillar y and
mandibular processes
can produce saliva
marker for what syndromes?
PARAMEDIAN LIP PITS
blind tract result from defective merging within man process
marker for cleft syndromes
van der Woude syndrome
inheritance? signs?
AD, seen with CL w/o CP and paramedial lip pits
post tongue papillae
circumvallate
lat tongue papillae
foliate
MICROGLOSSIA
ABNORMALLY SMALL TONGUE
aglossia due to
aplasia
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
microglossia can be associated with syndromes causing?
man hypoplasia
types of causes of marcoglossia
congenital and acquired
congential causes of macroglossia
vascular malformations- lymphangioma/hermangioma
down syndrome
neurofibromatosis
MEN
ACQUIRED CAUSES OF
MACROGLOSSIA
edentulism
mm hypertrophy
amyloidosis
acromegaly
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
tx of ankylglossia
frenectomy
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
benign migratory glossitis
erythema migrans
fissured tongues
usually not a problem, just collect debris (halitosis)
MELKERSSON ROSENTHAL
SYNDROME
A form of orofacial
granulomatosis
MELKERSSON ROSENTHAL
SYNDROME signs
1.Fissured tongue
2.Cheilitis granulomatosa
3.Facial paralysis
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
central papillary atrophy tx
antifungal (candidasis)
central pap atrophy
LINGUAL THYROID
Ectopic thyroid tissue in
posterior midline of
tongue
May lack thyroid tissue in
neck- do not remove without scan
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
thyroglossal duct cyst histo
would have normal histo of a cyst but may also have thyroid follicles present
app, location, demo
ORAL LYMPHOEPITHELIAL CYST
Cystic change of crypt epithelium of lymphoid aggregate
Young adults
Floor of mouth
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
CERVICAL LYMPHOEPITHELIAL CYST histo
stratified squamous epithelium exhibiting lymphoid tissue with germinal centers in the wall
when is dev stimed?
FORDYCE GRANULES
Ectopic sebaceous
glands
Development
stimulated at puber ty
fordyce granules
fordyce granule histo
identical to sebaceous glands
GINGIVAL FIBROMATOSIS forms
G e neralized
▪ Syndrome-associated
▪ Non-syndrome-associated – an isolated entity
L o c al ized
gingival fibromatosis
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
PORT WINE STAIN NEVUS
vascular nevus- a hermatoma of capillaires
Nevus flammeus (another name)
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
STURGE WEBER SYNDROME at the brain
Meningeal angiomatosis- tram -line calcifications
convulsive disorders
mental retardation
strudge weber
bilateral strudge weber possible?
yes, very severe form
