Epidermolytic Epidermolytic HyperkeratosisHyperkeratosis

(EHK)(EHK)

Bullous Congenital Bullous Congenital Ichthyosiform ErythrodermaIchthyosiform Erythroderma

Brandon Newell, MDBrandon Newell, MD

FIRST Family ConferenceFIRST Family Conference

Orlando, FL - June 27, 2010Orlando, FL - June 27, 2010

Recently renamedRecently renamed

Epidermolytic IchthyosisEpidermolytic Ichthyosis(EI)(EI)

FIRST Family ConferenceFIRST Family Conference

June 27, 2010June 27, 2010

Epidermolytic IchthyosisEpidermolytic Ichthyosis

Autosomal dominantly inherited Autosomal dominantly inherited form of ichthyosis (most cases)form of ichthyosis (most cases)

Incidence: 1 in 200,000-300,000

Roughly 50% of cases are due to a New mutation

Epidermolytic IchthyosisEpidermolytic Ichthyosis Abnormal gene: Abnormal gene: Keratin K1 Keratin K1 (Chr12) (Chr12)

and and Keratin 10 Keratin 10 (Chr17)(Chr17)

Coulombe Lab Johns Hopkins

EHK: Keratin functionEHK: Keratin function Keratins form intermediate filaments Keratins form intermediate filaments

Intermediate filaments provide Intermediate filaments provide structural stability to keratinocytesstructural stability to keratinocytes

Mutations=defective keratin proteins Mutations=defective keratin proteins

Intermediate filaments, function poorlyIntermediate filaments, function poorly

Skin cell collapses Skin cell collapses blistering occurs blistering occurs

The thickening of the skin is thought to The thickening of the skin is thought to be compensatory to protect against be compensatory to protect against blisteringblistering

Emedicine.com

Emedicine.com

EHKEHK NewbornsNewborns

Widespread blistersWidespread blisters Blisters rupture easily, Blisters rupture easily,

leaving raw skinleaving raw skin

-- Risk of severe infection, -- Risk of severe infection,

electrolyte problemselectrolyte problems

3-6months3-6months Hyperkeratosis (scales) Hyperkeratosis (scales)

begins to developbegins to develop

EHKEHK

As patients get older theyAs patients get older they

develop more scales, develop more scales,

experience less blisteringexperience less blistering

EHKEHK Scales tend to be more prominent in Scales tend to be more prominent in

flexural areas (armpits, crease of arm)flexural areas (armpits, crease of arm) Scales described as” corrugated Scales described as” corrugated

cardboard” scalescardboard” scales

EHK groupsEHK groups Patients with Keratin 1 mutationsPatients with Keratin 1 mutations

Severe palm and sole involvementSevere palm and sole involvement

• Patients with Keratin 10 mutations– Less severe palm involvement

Diagnosis of EHKDiagnosis of EHK

Clinical appearanceClinical appearance Genetic testingGenetic testing

Buccal swabBuccal swab Blood testBlood test

Prenatal diagnosis can be made Prenatal diagnosis can be made through chorionic villus sampling, through chorionic villus sampling, analysis of amniotic cells (amnio), or analysis of amniotic cells (amnio), or fetal skin biopsies.fetal skin biopsies.

TreatmentsTreatments Treatment is a Balance act of Treatment is a Balance act of

risks and benefitsrisks and benefits

Too much scale=decreased mobility, Too much scale=decreased mobility, infection/odorinfection/odor

Too little scale=more blistering, pain, Too little scale=more blistering, pain, infectionsinfections

TreatmentsTreatments NewbornsNewborns

High risk of infectionHigh risk of infection Monitor for electrolyte Monitor for electrolyte

abnormalities/dehydrationabnormalities/dehydration MoisturizersMoisturizers Maximize nutritional intakeMaximize nutritional intake

NutritionistNutritionist Higher calorie formulas or calorie added breastmilkHigher calorie formulas or calorie added breastmilk

Basic wound careBasic wound care Moisturizers, antibiotics if indicatedMoisturizers, antibiotics if indicated

TreatmentsTreatments Moisturizers are mainstay of Moisturizers are mainstay of

maintenance therapymaintenance therapy Ointments (more greasy)Ointments (more greasy)

Vaseline, white petroleum jellyVaseline, white petroleum jelly Aquaphor ointmentAquaphor ointment

Creams (less greasy)Creams (less greasy) Cetaphil creamCetaphil cream VanicreamVanicream Eucerin creamEucerin cream

TreatmentsTreatments Moisturizers are mainstay of Moisturizers are mainstay of

maintenance therapymaintenance therapy OilsOils

Baby oil, mineral oil, olive oilBaby oil, mineral oil, olive oil Robathol bath oilRobathol bath oil Dermasmooth oil (without steroid)Dermasmooth oil (without steroid)

Salt BathsSalt Baths Sea Salt in bathwater: ½-2 cup per bathtubSea Salt in bathwater: ½-2 cup per bathtub

Weekly Salt water baths (3% NaCl): Weekly Salt water baths (3% NaCl): Pipes must be ok to handle salt waterPipes must be ok to handle salt water Our PT whirlpool = 60 gallonsOur PT whirlpool = 60 gallons 60 gal = ~230,000 ml60 gal = ~230,000 ml 6,810g NaCl added to 230,000ml = 3% NaCl6,810g NaCl added to 230,000ml = 3% NaCl 15# sea salt to 60 gallons15# sea salt to 60 gallons Begin with 7.5#, 10#, 15#Begin with 7.5#, 10#, 15#

Restaurant supply suppliersRestaurant supply suppliers Pool supply stores Pool supply stores

TreatmentsTreatments Topical Keratolytics (to reduce scaling in older Topical Keratolytics (to reduce scaling in older

patients)patients) Lactic acid containing productsLactic acid containing products

LacHydrin (Rx)LacHydrin (Rx) AmLactinAmLactin UlactinUlactin LacticareLacticare Eucerin plus creamEucerin plus cream

Problem: can sting and burn initially, gradually improves with Problem: can sting and burn initially, gradually improves with continued usecontinued use

TreatmentsTreatmentsCompounded medicationsCompounded medications

Medications must be mixed at the pharmacyMedications must be mixed at the pharmacy Can tailor ingredients based on need/patientCan tailor ingredients based on need/patient

10% lactic acid + 10% urea in vaseline 2x/day10% lactic acid + 10% urea in vaseline 2x/day 20% lactic acid + 20% urea in vaseline 2x/day20% lactic acid + 20% urea in vaseline 2x/day Severely thick palms and solesSeverely thick palms and soles

50% salicylic acid + 20% urea in vaseline 1x/day50% salicylic acid + 20% urea in vaseline 1x/day

TreatmentsTreatments Topical Retinoids (“Retin A”)Topical Retinoids (“Retin A”)

Typically used for acneTypically used for acne Cream formulation better for skinCream formulation better for skin Gel formulation better for hair bearing areas (scalp)Gel formulation better for hair bearing areas (scalp) Tazorac (Tazarotene)Tazorac (Tazarotene)

Strong synthetic retinoidStrong synthetic retinoid Helps reduce scalingHelps reduce scaling Can be used around round the eye to help loosen the Can be used around round the eye to help loosen the

skin around the eye to allow the eye to close shutskin around the eye to allow the eye to close shut Pregnancy classification X Pregnancy classification X Comes in 60g and 100g tubesComes in 60g and 100g tubes $$$$$$$$$ very expensive$$$$$$$$$ very expensive

Oral “Retinoids”Oral “Retinoids” Accutane (isotretinoin)Accutane (isotretinoin) Soriatane (acitretin)Soriatane (acitretin)

Requires monitoring of bloodworkRequires monitoring of bloodwork Numerous side-effects existsNumerous side-effects exists

Risk vs benefitsRisk vs benefits Not for everyone Not for everyone Many can tolerate this for yearsMany can tolerate this for years Can diffusely reduce scaleCan diffusely reduce scale

TreatmentsTreatments InfectionsInfections Antibacterial soaps Antibacterial soaps

Cetaphil antibacterial soapCetaphil antibacterial soap Oilatum ADOilatum AD Chlorhexidine soaps (Hibiclens)Chlorhexidine soaps (Hibiclens)

Clorox Bleach in bathwater “Bleach Baths”Clorox Bleach in bathwater “Bleach Baths” Kills bacteria on contact in a few minutesKills bacteria on contact in a few minutes ¼ cup per half average bathtub of water¼ cup per half average bathtub of water ½ cup per full bathtub of water½ cup per full bathtub of water 2 times/week up to daily2 times/week up to daily Generic unscented Clorox is inexpensiveGeneric unscented Clorox is inexpensive Dilute bleach in spray bottle can be sprayed on in showerDilute bleach in spray bottle can be sprayed on in shower

Clorox Anywhere sprayClorox Anywhere spray

TreatmentsTreatments InfectionsInfections

Fungal infections can occurFungal infections can occur Wet moist areas: finger and toe web spaces, feetWet moist areas: finger and toe web spaces, feet White, scaly plaquesWhite, scaly plaques May be treated with:May be treated with:

Topical antifungals: Lotrimin cream, ketoconazole Topical antifungals: Lotrimin cream, ketoconazole creamcream

Oral antifungal medicationsOral antifungal medications

TreatmentsTreatments InfectionsInfections

Topical antibioticsTopical antibiotics Bacitracin, Double antibiotic ointment (Polysporin): OTCBacitracin, Double antibiotic ointment (Polysporin): OTC Bactroban (mupirocin): RxBactroban (mupirocin): Rx Altabax: RxAltabax: Rx

Oral antibioticsOral antibiotics Treat staph or strep infectionsTreat staph or strep infections

Recommend having your doctor obtain a skin culture Recommend having your doctor obtain a skin culture (swab) to monitor for resistant bacteria(swab) to monitor for resistant bacteria

TreatmentsTreatments InfectionsInfections

Topical antibioticsTopical antibiotics Bacitracin, Double antibiotic ointment (Polysporin): OTCBacitracin, Double antibiotic ointment (Polysporin): OTC Bactroban (mupirocin): RxBactroban (mupirocin): Rx Altabax: RxAltabax: Rx

Oral antibioticsOral antibiotics Treat staph or strep infectionsTreat staph or strep infections

Recommend having your doctor obtain a skin culture Recommend having your doctor obtain a skin culture (swab) to monitor for resistant bacteria(swab) to monitor for resistant bacteria