1. Brandon Newell, MD FIRST Family Conference Orlando, FL - June 27, 2010
Epidermolytic Hyperkeratosis (EHK) Bullous Congenital Ichthyosiform Erythroderma
Brandon Newell, MD
FIRST Family Conference
Orlando, FL - June 27, 2010

2. Recently renamed Epidermolytic Ichthyosis (EI)
FIRST Family Conference
June 27, 2010

3. Epidermolytic Ichthyosis
Autosomal dominantly inherited form of ichthyosis (most cases)
Incidence: 1 in 200, ,000
Roughly 50% of cases are due to a New mutation

4. Epidermolytic Ichthyosis
Abnormal gene: Keratin K1 (Chr12) and Keratin 10 (Chr17)
Coulombe Lab Johns Hopkins

5. 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

6. Emedicine.com

7. Emedicine.com

8. EHK Newborns 3-6months Widespread blisters Blisters rupture easily,
leaving raw skin
-- Risk of severe infection,
electrolyte problems
3-6months
Hyperkeratosis (scales)
begins to develop

9. EHK As patients get older they develop more scales,
experience less blistering

10. EHK
Scales tend to be more prominent in flexural areas (armpits, crease of arm)
Scales described as” corrugated cardboard” scales

11. EHK groups Patients with Keratin 1 mutations
Severe palm and sole involvement
Patients with Keratin 10 mutations
Less severe palm involvement

12. 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.

13. Treatments Treatment is a Balance act of risks and benefits
Too much scale=decreased mobility, infection/odor
Too little scale=more blistering, pain, infections

14. 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

15. Treatments Moisturizers are mainstay of maintenance therapy
Ointments (more greasy)
Vaseline, white petroleum jelly
Aquaphor ointment
Creams (less greasy)
Cetaphil cream
Vanicream
Eucerin cream

16. Treatments Moisturizers are mainstay of maintenance therapy Oils
Baby oil, mineral oil, olive oil
Robathol bath oil
Dermasmooth oil (without steroid)

17. 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

18. 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

19. 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

20. Treatments Topical Retinoids (“Retin A”) Tazorac (Tazarotene)
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

21. 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

22. 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

23. 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

24. Treatments Infections Topical antibiotics Oral 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

25. Treatments Infections Topical antibiotics Oral 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