Photo Album - Foundation for Ichthyosis & Related Skin Types
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Transcript Photo Album - Foundation for Ichthyosis & Related Skin Types
Epidermolytic
Hyperkeratosis
(EHK)
Bullous Congenital
Ichthyosiform Erythroderma
Brandon Newell, MD
FIRST Family Conference
Orlando, FL - June 27, 2010
Recently renamed
Epidermolytic Ichthyosis
(EI)
FIRST Family Conference
June 27, 2010
Epidermolytic Ichthyosis
Autosomal dominantly inherited form of
ichthyosis (most cases)
Incidence: 1 in
200,000-300,000
Roughly 50% of
cases are due to a
New mutation
Epidermolytic Ichthyosis
Abnormal gene: Keratin K1 (Chr12) and
Keratin 10 (Chr17)
Coulombe Lab
Johns Hopkins
EHK: Keratin function
Keratins form intermediate filaments
Intermediate filaments provide structural
stability to keratinocytes
Mutations=defective keratin proteins
Intermediate filaments, function poorly
Skin cell collapses blistering occurs
The thickening of the skin is thought to be
compensatory to protect against blistering
Emedicine.com
Emedicine.com
EHK
Newborns
Widespread blisters
Blisters rupture easily,
leaving raw skin
-- Risk of severe infection,
electrolyte problems
3-6months
Hyperkeratosis (scales)
begins to develop
EHK
As patients get older they
develop more scales,
experience less blistering
EHK
Scales tend to be more prominent in flexural
areas (armpits, crease of arm)
Scales described as” corrugated cardboard”
scales
EHK groups
Patients with Keratin 1 mutations
Severe palm and sole involvement
• Patients with Keratin 10 mutations
– Less severe palm involvement
Diagnosis of EHK
Clinical appearance
Genetic testing
Buccal swab
Blood test
Prenatal diagnosis can be made through
chorionic villus sampling, analysis of
amniotic cells (amnio), or fetal skin
biopsies.
Treatments
Treatment is a Balance act of
risks and benefits
Too much scale=decreased mobility,
infection/odor
Too little scale=more blistering, pain,
infections
Treatments
Newborns
High risk of infection
Monitor for electrolyte abnormalities/dehydration
Moisturizers
Maximize nutritional intake
Nutritionist
Higher calorie formulas or calorie added breastmilk
Basic wound care
Moisturizers, antibiotics if indicated
Treatments
Moisturizers are mainstay of maintenance
therapy
Ointments (more greasy)
Vaseline, white petroleum jelly
Aquaphor ointment
Creams (less greasy)
Cetaphil cream
Vanicream
Eucerin cream
Treatments
Moisturizers are mainstay of maintenance
therapy
Oils
Baby oil, mineral oil, olive oil
Robathol bath oil
Dermasmooth oil (without steroid)
Salt Baths
Sea Salt in bathwater: ½-2 cup per bathtub
Weekly Salt water baths (3% NaCl):
Pipes must be ok to handle salt water
Our PT whirlpool = 60 gallons
60 gal = ~230,000 ml
6,810g NaCl added to 230,000ml = 3% NaCl
15# sea salt to 60 gallons
Begin with 7.5#, 10#, 15#
Restaurant supply suppliers
Pool supply stores
Treatments
Topical Keratolytics (to reduce scaling in older
patients)
Lactic acid containing products
LacHydrin (Rx)
AmLactin
Ulactin
Lacticare
Eucerin plus cream
Problem: can sting and burn initially, gradually improves
with continued use
Treatments
Compounded
medications
Medications must be mixed at the pharmacy
Can tailor ingredients based on need/patient
10% lactic acid + 10% urea in vaseline 2x/day
20% lactic acid + 20% urea in vaseline 2x/day
Severely thick palms and soles
50% salicylic acid + 20% urea in vaseline 1x/day
Treatments
Topical Retinoids (“Retin A”)
Typically used for acne
Cream formulation better for skin
Gel formulation better for hair bearing areas (scalp)
Tazorac
(Tazarotene)
Strong synthetic retinoid
Helps reduce scaling
Can be used around round the eye to help loosen the
skin around the eye to allow the eye to close shut
Pregnancy classification X
Comes in 60g and 100g tubes
$$$$$$$$$ very expensive
Oral “Retinoids”
Accutane (isotretinoin)
Soriatane (acitretin)
Requires monitoring of bloodwork
Numerous side-effects exists
Risk vs benefits
Not for everyone
Many can tolerate this for years
Can diffusely reduce scale
Treatments
Infections
Antibacterial soaps
Cetaphil antibacterial soap
Oilatum AD
Chlorhexidine soaps (Hibiclens)
Clorox Bleach in bathwater “Bleach Baths”
Kills bacteria on contact in a few minutes
¼ cup per half average bathtub of water
½ cup per full bathtub of water
2 times/week up to daily
Generic unscented Clorox is inexpensive
Dilute bleach in spray bottle can be sprayed on in shower
Clorox Anywhere spray
Treatments
Infections
Fungal infections can occur
Wet moist areas: finger and toe web spaces, feet
White, scaly plaques
May be treated with:
Topical antifungals: Lotrimin cream, ketoconazole cream
Oral antifungal medications
Treatments
Infections
Topical antibiotics
Bacitracin, Double antibiotic ointment (Polysporin): OTC
Bactroban (mupirocin): Rx
Altabax: Rx
Oral antibiotics
Treat staph or strep infections
Recommend having your doctor obtain a skin
culture (swab) to monitor for resistant bacteria
Treatments
Infections
Topical antibiotics
Bacitracin, Double antibiotic ointment (Polysporin): OTC
Bactroban (mupirocin): Rx
Altabax: Rx
Oral antibiotics
Treat staph or strep infections
Recommend having your doctor obtain a skin
culture (swab) to monitor for resistant bacteria