Download EYES AND EARS - FIRST - FIRST - Foundation for Ichthyosis

EYES AND EARS
Amy Paller, MD
William Rizzo, MD
Peter Elias, MD
FIRST Family Conference
Orlando, FL - June 26, 2010
Anatomy of the Eye
Normal Retina
Types of Eye Problems in
Ichthyosis

Lens
Cataracts
 Near sightedness (Myopia)
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Eye lid abnormalities - Ectropion
Cornea - keratitis
Retina
Retinitis pigmentosa
 Macular deposits

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Developmental errors – Colobomas
Cataracts


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Clouding and loss of transparency of the
lens
Progressive loss of vision
Treatment
Vision initially corrected with glasses,
contacts
 Surgical removal of lens and replacement
with clear plastic intraocular lens

Cataracts
Blurred Vision due to Cataracts
Ichthyoses Associated with
Cataracts

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Neutral lipid storage disease
Conradi-Hünermann syndrome
Rhizomelic chondrodysplasia punctata
Flynn-Aird syndrome
Myopia (Near Sightedness)


Common - affects
25% of the population
Eyes focus incorrectly

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Blurred distant vision
Squinting
Headaches
Myopia (Near Sightedness)
Myopia (Near Sightedness)

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Can occur in anyone with ichthyosis
Some ichthyosis patients have a high
incidence


Sjögren-Larsson syndrome >60%
Therapy
Glasses, contacts
 Refractive surgery –LASIK
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Keratitis

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Inflammation of the
cornea
Many causes

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KID syndrome
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Infections, rheumatoid
arthritis, autoimmune,
etc
Vascularizing keratitis
Redness, painful
Loss of vision
Treatment – surgical
procedures?
Messmer et al, Ophthalmol 112:e1, 2005
Ectropion


Lower eyelid everts
due to tightening of
skin
Inability to close eye

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
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Dry eyes
Erythema
Painful corneal ulcers
Loss of vision
Ichthyoses with Ectropion

Related to severity of ichthyosis
Harlequin ichthyosis
 Lamellar ichthyosis
 Others

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Treatment
Artificial tears
 Topical retinoids
 Surgical procedures not so effective

Retinitis Pigmentosa


Retinal degeneration characterized by
pigment deposition
Symptoms
Night blindness
 Progressive loss of vision - “tunnel vision”

Refsum Disease Associated
with Retinitis Pigmentosa

•
Genetic defect in breakdown of phytanic acid (a
dietary branched-chain fatty acid)
Symptoms - onset in adolescence/adulthood
 Night blindness → progressive tunnel vision
 Ataxia
 Ichthyosis – resembles ichthyosis vulgaris
 Peripheral neuropathy
 Cardiac conduction – arrhythmia/sudden
death
Normal Retina
Retinitis Pigmentosa
Retinitis Pigmentosa and
Progressive Tunnel Vision
Sjögren-Larsson Syndrome
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
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Ichthyosis
Mental retardation
Spasticity
Perimacular
glistening white dots
Photophobia
Eye Coloboma

Developmental defect
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Symptoms

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Iris
Lens or retina
Photophobia
Vision impairment
Zunich neuroectodermal syndrome
What ear problems are
associated with ichthyosis?
Anatomy of the Ear
Ossicles = tiny bones
Stapes = Stirrup
Incus = Anvil
Malleus = Hammer
External auditory canal
Eardrum = tympanic membrane
Hearing loss


Sensorineural deafness (for example,KID syndrome)
 Problem in inner ear or nerve
 Progressive, not reversible
 Treatment - hearing aids, cochlear implant
Conduction deafness (for example, lamellar ichthyosis)
 Problem in external auditory canal or middle ear
 Non-progressive
 Treatment – medications, surgical repair
Ichthyosis Associated with
Hearing Loss

Keratitis-Ichthyosis-Deafness (KID) syndrome
Neutral lipid storage disease
Refsum disease
CEDNIK syndrome
Hystrix-like ichthyosis with deafness

Zunich neuro-ectodermal syndrome (CHIME)
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External Auditory Canal (EAC) Anatomy

EAC is a skin-lined tube with

Cartilaginous portion
(outer one third)
 Skin is thick and adherent
 Cerumen (ear
wax) production

Bony portion (inner two thirds)
 Skin is thin, sensitive to feel,
and susceptible to trauma
EAC can be straightened by pulling
pinna backward and upward


Photo courtesy of Michael Hawke, MD.
External Auditory Canal Function
Plays a small role in sound amplification
 Protects the tympanic membrane
from injury
 Curved shape prevents direct entry
from exterior
Cartilaginous canal
 Hair and cerumen trap debris and
foreign bodies
 Self-cleanses via shedding of skin that lines
the EAC

Photos courtesy of Michael Hawke, MD.
Bony canal
Cerumen: Protective Effects in the EAC
Produced in outer third of external
auditory
canal (EAC)
 Contains primarily shed skin cells,
polyunsaturated fatty acids and
immune system components
(immunoglobulins)
 Is slightly acidic (pH 6.1)


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Controls the growth of some bacteria,
especially Pseudomonas aeruginosa
Has a waterproofing effect

Reduces maceration of the EAC
Photomicrograph courtesy of C.G. Wright, PhD.
Microbiology of the Healthy
External Auditory Canal
Distribution of All Recovered Microorganisms
288/310 (93%)
Gram-positive organisms
Gram-negative organisms
286/314 (92%)
14/310 (4.5%)
3/314 (1%)
Fungal isolates*
*Candida, Curvularia, or Penicillium sp.
Stroman DW, et al. Laryngoscope. 2001;111:2054-2059.
8/310 (2.5%)
23/314 (7%)
EAC
Cerumen
Ichthyosis and the Ear Canal
 Build
up of cerumen and debris
 Plugging
of the canal and decreased hearing
(conductive hearing loss)
 Predisposition
to outer ear infections
Very thin skin in canal, closely attached to bone and
not moveable
 Skin is easily torn by self-cleaning or scratching,
allowing infection to start

Hygiene of the Ear Canal
 Manual
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Cleaning: The Don’ts
Home use of unguarded currette
Cotton tip applicators
Candling
Enzyme drops
(not)
Hygiene of the Ear Canal
 Manual

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Cleaning: best done by physicians
Irrigation
Suction
Curette
Otitis Externa
 Acute
diffuse bacterial otitis externa (AOE)
 Furunculosis
 Viral otitis externa
 Eczematous otitis externa
 Fungal otitis externa
 Chronic otitis externa
 Foreign Body
Acute Otitis Externa:
Risk Factors and Pathogenesis
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Usually diffuse and bacterial
Summer season (year-round in
tropical and subtropical regions)
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High temperature
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High humidity
Prolonged water exposure
(ie, “swimmer’s ear”)
Alkalinization of the external
auditory canal
Canal trauma
Excessive scaling…..
Photo courtesy of Michael Hawke, MD.
Diagnosis of Bacterial Acute
Otitis Externa

History

Pain

Tenderness

Sometimes itching

Hearing loss

Physical examination

Swollen external auditory
canal
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Erythema (variable)

Watery, scant exudate

Pronounced tenderness to
touch
Photo courtesy of Michael Hawke, MD.
Bacterial Acute Otitis Externa (AOE): Types

Furunculosis

Abscess in lateral
portion of external
auditory canal

May require systemic
antibiotic therapy
Photo courtesy of Michael Hawke, MD.
Microbiology of Acute Otitis Externa
Organisms (%) Recovered During a Series of Clinical Trials
Other
P. aeruginosa
30%
62%
8%
S. aureus
Roland P, Stroman D. Laryngoscope. 2002;112:1166-1177.
Principles of Treating Bacterial
Acute Otitis Externa
 Clean
the canal (“aural toilet”)

Suction and microscopic removal of debris

Irrigation

Dry mopping
 Topical
therapy: specialist must ensure
that the eardrum is intact (esp. risk
dizziness, ringing in ears)
 Suitable
pain management
Topical Therapy

Stenting swollen external auditory
canal with a wick for 48 to 72 hours
may improve medication delivery

Topical antibiotic therapy to cover
Gram + and –, especially
pseudomonas infection (4-7 days)

Aminoglycosides
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Fluoroquinolones

Systemic antibiotics generally
not required
Top photo courtesy of Michael Hawke, MD.
Ototopical Therapeutic
Options for AOE
 Without
an antibiotic
 With


an antibiotic
Aminoglycoside
Fluoroquinolone
 With
an antibiotic +
a steroid
 Other


considerations
Low pH
Low viscosity
Ototopical Agents Without Antibiotics

Acetic acid ± hydrocortisone (pH 3.0)
 VOSOL* Otic and VOSOL* HC Otic
 2% acetic acid in propylene glycol
 1% hydrocortisone

Acetic acid (pH 4.5-6.0)
 DOMEBORO* Otic Solution
 2% acetic acid in modified Burow’s solution
(aluminum acetate)
*Trademarks are the property of their respective owner.
Aminoglycosides: Neomycin Contact Allergy
 Incidence
increasing due to
widespread, long-standing use
 Cross-reactivity
with other
aminoglycosides
 Routine
use not recommended because of risk for
sensitization (eg, neomycin,
polymyxin B, hydrocortisone
(Cortisporin Otic))
Preventive care
 Don’t
put anything into the ear canal (esp cotton
swabs)
 Dry ear after swimming or showering (consider
small battery-powered ear dryer)
 Don’t swim in polluted water
 Avoid swimming if evidence of mild AOE
 If
significant scaling in ears, consider professional
removal of earwax
Preventive care


Home care: white vinegar mixed 1:1 with rubbing alcohol or
distilled water
Commercial Products to soften earwax - Several available
• Mineral oil drops or, if itchy, fluocinolone
0.01% in oil (not for chronic use)
• Topical steroids in ear drops can
increase the risk of fungal otitis
externa
• Chronic use of antibiotics can increase
risk
Otomycosis
Usually results from
infection with candida
(yeast) or aspergillus
Will not respond to
topical antibacterial
therapy, but topical
ketoconazole, cresylate
ear drops, and aluminum
acetate ear drops can be
effective
Photo courtesy of Michael Hawke, MD.
Thanks for watching and listening……