Epidermolytic Hyperkeratosis (EHK) Bullous Congenital Ichthyosiform Erythroderma

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

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

3. Epidermolytic Ichthyosis Incidence: 1 in 200,000-300,000 Roughly 50% of cases are due to a New mutation Autosomal dominantly inherited form of ichthyosis (most cases)

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

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

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8. EHK • Newborns • 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 10 mutations • Less severe palm involvement • Patients with Keratin 1 mutations • Severe palm and sole 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”) • 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 • 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 • 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