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