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NYC FD Foundation 2014
Ear and Sinus Manifestations of
Polyostotic Fibrous Dysplasia in
McCune-Albright Syndrome
H. Jeffrey Kim, M.D.
National Institute on Deafness & Other Communication Disorders
National Institutes of Health
Bethesda, MD
Georgetown University Medical Center
Washington, DC
Fibrous Dysplasia
● 
Skull & Facial involvement is common
in fibrodysplasia (FD) and MAS
–  Skull with FD has been identified in a perhistoric
specimen from 7th century Anglo-Saxon age
–  No large comprehensive studies are available for
temporal bones, nose and sinuses
–  Current NIH protocols help us to look at ear and
sinonasal presentations in PFD/MAS
Outline of this talk
●  Ear
manifestations of PFD/MAS
●  Nasal
MAS
and sinus manifestations of PFD/
Normal Ear Structures
Skull
Ear inside the temporal bone
Types of hearing loss
● 
3 types of hearing loss
–  Conductive hearing loss (CHL)
–  Senorineural hearing loss (SNHL)
–  Mixed hearing loss (MHL)
Audiologic evaluation
● 
Behavioral audiologic
test
–  Pure tone audiometry
–  Speech audiometry
Examination of ears
Otoscope
Microscope
Normal tympanic membranes
Right
Left
CT scan of Temporal Bone
Ear Manifestations
●  Cross-sectional
analysis
–  107 patients with CT scans
●  Longitudinal
analysis (>4 years f/u)
–  24 patients available
Demographics
Total no of subjects
Mean Age (range)
Gender (M:F)
107
23.7 yrs (3.3-80.4)
47:60
CT evaluation
●  Temporal
bone involvement (+/-)
●  Outer ear canal (EAC)
●  Ossicular crowding/impingement in
upper area of middle ear (attic)
●  FD involvement around inner ear bone
(otic capsule) and hearing nerve canal
(internal auditory canal)
CT Findings in 107 subjects
Temporal
bone sites
(+)
FD
Bilateral
(%)
Right
(%)
Left
(%)
Temporal
bone
96
(90%)
50
(47%)
25
(23%)
21
(20%)
EAC
71
(66%)
26
(24%)
25
(23%)
20
(19%)
Narrow outer ear canal
Right ear
Outer ear canal dimension
FD FD
(+) (-)
N:
97
45
22.2
24.3
Diameter (axial) 5.02
in mm
6.27
Age:
P-value:
<0.001
FD Progression in outer ear canal
Dimension in mm
Outer ear canal
(n=24 pts)
Axial Diameter
Initial CT Last CT
4.9
4.7
P-value
0.34
Ear canal cholesteatoma (n=1)
FD crowding middle ear bones
Normal
Attic area
R
L
Attic and crowded ossicles
Middle ear
bone
Impingement
Right
ears
16
Left
ears
17
Total
ears
33
(15%)
Type of Hearing loss(n=107 ears)
Degree of Hearing loss(n=30ears)
3%
17%
3%
Mild
Moderate
Severe
77%
Profound
CHL in PFD (n=23 in 16 pts)
No of ears Causes of CHL
10
Attic crowding
7
2
Chronic Eustachian tube
problem/Ear tube placement
Ear drum perforation
1
Ear canal cholesteatoma
1
Unknown
2
Middle ear fluid not related to FD
SNHL (n=9 ears in 7 pts)
No of ears
Causes of SNHL
2
Family history of SNHL
2
Acoustic trauma
1
Presbycusis (age-related hearing loss)
1
Presbycusis & IAC narrowing?
1
Elongated IAC
1
Inner ear bone (otic capsule)?
1
Unknown
SNHL and FD
Erosion of Inner ear bone
Narrow internal
auditory canal
Common ear findings
●  Temporal
bone involvement is common
in PFD/MAS
–  Involvement does not mean significant
clinical impairment
●  Ear
canal narrowing is the most
common finding
●  Ear canal cholesteatoma-rare
●  Hearing loss (both conductive and
sensorineural) is not common and if one
does, mostly mild degree
Ear canal narrowing or stenosis
● 
Cerumen impaction
–  Ear clogging sensation
–  Hearing loss-conductive
–  Chronic ear canal infection
–  Canal Cholesteatoma-rare
● 
Medical therapy for cerumen
–  Do not use Q-tips
–  Irrigation
»  If no ear drum hole
–  OTC wax removal kits
»  Debrox® or Murine®
–  Cleaning by ENTs
»  Esp narrow ear canals
Surgical treatment for narrow ear
canal
●  Indications
–  Difficult to clean ear canal
–  Chronic or recurrent ear infections
–  Ear canal cholesteatoma
Surgical Treatment
Ear surgeries in FD
●  High
recurrence rate, especially in
young pts
●  May require multiple surgeries
●  Wait until older if possible
●  Control endocrine problems (GH,
Thyroid)
Hearing problems
Mild to Moderate Hearing Loss
●  Mild
to moderate hearing loss
–  Difficult to detect sounds with background
noises
–  Decreased interactions with and
responsiveness to environment (eg school,
work)
–  A study of 207 children with prolonged ear
infections from Boston
»  Chronic hearing loss associated with lower
scores on tests of cognitive ability, speech and
language, and school performance at age of 7
Management options
Preferential seating in school
●  Auditory amplification
● 
–  Conventional hearing aids
–  For both conductive and sensorineural hearing loss
–  FM assistive listening device
Surgical correction to widen ear canal and
correct middle ear bone problems
●  Implantation hearing device: BAHA® by
Cochlear and Ponto® by Oticon
●  SoundBite® by Sonitus
● 
Conventional hearing aids
CIC
BTE
FM auditory trainer
FM-based system
Ossicular Chain Reconstruction
Bone Anchoring Hearing Device
Bone Anchoring Hearing Aid
(BAHA®) Attract
Bone Anchoring Hearing Aid
(BAHA®) Connect
Bone Anchoring Hearing Device
(Sophono® Alpha 2)
SoundBite® Hearing System
Nasal cavity and Sinuses
Paranasal sinuses
●  Functions:
–  Nasal cavity and turbinates:
»  Humidify, filter, and moisturize air
–  Sinuses: Controversial
»  Less mass to our skull
»  Affect resonance of voice
»  Leads to sinus infection
●  Nasal
cavity and sinuses are commonly
affected in FD
MAS/PFD—NIH
●  112
patients with craniofacial
involvement
–  Longitudinal analysis: 31 patients for 4+
years
●  ENT
evaulation
●  Followed serially with CT of head
Fiberoptic nasal endoscopy
CT of Head/Face
Normal CT
Maxillary sinuses
Ethmoid & Sphenoid sinuses
PFD involved sinus
Maxillary sinus & turbinate Ethmoid & Sphenoid sinuses
*
*
Demographics
●  Total
subjects: 112
●  Gender (male:female): 49:63
Sinonasal FD staging systemModified Lund-MacKay system
Mod
Sinonasal FD staging System
FD Score
Sinuses (Frontal, Maxillary, Ethmoid, Sphenoid)
No Involvement
0
<50% obliteration/involvement
1
>50% obliteration/involvement
2
100% obliteration/involvement
3
Inferior & Middle Turbinate, Nasal Floor (Left & Right), Septum
Possible Total FD Score
No Involvement
0
Partial Involvement
1
Total Involvement
2
38
Sinonasal FD involvement
FD Score-Degree of FD involved
Clinical symptoms
Symptoms
No. Pts
%
Headache/
Facial pain
Nasal
congestion
32/98
33
28/84
33
Sinusitis
7/78
9
Decreased
smell
18/112
7
Sinonasal clinical symptoms
Symptoms
FD score
Affected
(mean)
FD score
Unaffected
(mean)
p-value
Headache or Facial pain
(32/98)
Nasal congestion
(28/84)
Chronic sinusitis
(7/78)
Decreased smell
(8/112)
13.97
13.80
0.46
17.11
12.13
0.01*
11.6
14.3
0.25
22.6
13.3
<0.05*
Endocrine problems and FD score
Endocrinopathy
FD score
Affected
(mean)
FD score
Unaffected
(mean)
p-value
GH Excess
(n=30)
Overactive
thyroid(n=32)
18.26
12.26
0.003*
17.78
12.36
0.008*
Early Puberty
(n=57)
14.95
12.85
0.12
Sinonasal Disease
●  8/78
reported recurrent or chronic
sinusitis
–  Only 1 demonstrated any CT evidence
●  6/112
had undergone sinus surgery
–  Biopsy
–  Chronic congestion or sinusitis
●  No
serious complications of sinusitis
except 1 case of mucocele
Progression of sinonasal FD: >4 yrs
Mean follow-up=6.25 yrs
(Range 4.4-9 yrs)
(+)
Progression of
dz
(-)
Progression of
dz
No of subjects
Total n=31
Mean age (yrs)
(range)
Change in FD score
14
17
11.1
(4.8-31.2)
2.92
25.2
(5.6-52.8)
0
Age vs Changes in FD score
PFD and Paranasal sinuses
●  The
most common symptom:
–  Nasal congestion
»  Associated with extensive sinus disease and
inferior turbinate enlargement
–  Extensive FD sinus involvement-not
necessary associated with frequent sinusitis
»  When sinuses are obliterated, no more air spaces
present to be infected
●  Endocrine
problems (thyroid and growth
hormone) can affect disease severity
●  Progression slows down after adolescence
Treatment of PFD nose/sinus
problems
●  Nasal
saline spray
●  Nasal saline irrigation
●  Nasal steroid spray
●  Nasal anthistamine spray
●  Antihistamines if allergies
●  Antibiotics if bacterial sinusitis
Surgical treatment
●  Biopsy
–  If a diagnosis is uncertain
–  Suspect malignancy or other pathology esp
if there is rapid growth
–  Endoscopic technique
Surgical treatment
●  Surgery-Endoscopic
vs External open
–  Nasal obstruction
–  Recurrent sinusitis after failure of medical
treatment
–  Mucocele and infection
–  Eye problem
»  vision problem, protuding eyes
–  Cosmetic
–  Aneurysmal bone cyst (ABC)
–  Malignancy
Endoscopic sinus surgery
●  Better
instruments
–  Micro-drills
–  3-D Endoscopes
●  Image-guided
system
External open procedures
●  Indications
–  Extensive disease
involving skull base,
orbit, etc.,
–  Malignant disease
–  Inaccessible by
endoscopic technique
–  Re-do cases when
landmarks are obscured
Considerations before surgery
●  In
cases of extensive disease, complete
resection is not possible
●  Fibrous dysplasia bone can grow back
–  May require reoperation
●  Control
endocrine problems
●  Wait until older if possible
Contributors
Georgetown University Medical Center
Timothy DeKlotz, M.D.
National Institute on Deafness and Communication Disorders
Carmen Brewer, Ph.D.
Christopher Zalewski, Ph.D
Kelly A King, Ph.D
National Institute of Dental & Craniofacial Research
Michael T Collins, M.D. Carolee M Cutler, M.D.
NIH Diagnostic Radiology Department
John A. Butman, M.D., Ph.D.
All MAS/PFD patients at NIH