Care Recommendations for Children and Adults - Presented at the UK ISG Family Conference 2023

Care Recommendations for EI

Helen Lill Cat Lancashire

What will we discuss?

● EI Skin care basics and example care routines

● Keratolytics and Retinoids

● Wounds, Blisters, and Allergies

● Infections - how to recognise trouble ●

●

Scalp care

Plantar-Palmar Keratosis (PPK)

● Temperature dysregulation ● Dealing with comments / Advocating for yourself

Life hacks

Travelling with EI

Current topics of interest

Skin care basics for EI

Bathing

- What to put in the bath and why?

- Bleach / Bicarbonate of soda / Salt / Oats

Exfoliation

- Wash cloth / Sponges / Exfoliators / Tools ● Moisturisers

-

Lotions / Creams / Ointments / Glycerin

Bathing

Suessmuth, K., et al (2020): Ichthyosis in Everyday Practice

Moisturisers

Mazereeuw-Hautier, J., et al (2018); Chamlin, S., et al (2002); Rout, D., et al (2019); FIRST (2021)

Ceramide lotion Vs Ointments

Lill, H. (2022)

Ceramide lotion Vs Ointments

Lill, H. (2022)

Ceramide lotions

Principles of skin care?

Humectant?

Oberoi, J. (2022); Kraft, N. and Lynde, C (2005)

Occlusive?

Kraft, N. and Lynde, C (2005);

Ghadially, R, Halkier-Sorensen, L, and Elias, P. (1992);

Oberoi, J. (2022)

Emollient?

Sethi, A. et al (2016); Oberoi, J. (2022)

Find the right mix for you!

● Finding the right solution for EI skin is trial and error, but understanding the basic principles helps us find the right ingredients to work with

● Emollient = nourishes the skin biome and restores the skin barrier, but still allows the skin to breathe

● Humectant = makes the water from the bath last longer so that skin stays supple for longer.

● Occlusives = Not ideal as a moisturiser for EI, but remain useful for wound care and sealing wounds

Care Routines

Cat & Alfie

Helen & Arienne

Cat & Alfie

Bath & Exfoliation

Moisturisers & Keratolytics

Cat & Alfie

Infection care

Blister & Wound care

Helen & Arienne

Helen & Arienne

Skinnies WEB clothing

Exfoliation tools

Helen & Arienne

Odds & Sods!

Allergies & Fungal infections

Wound & Blister care

Keratolytics

● What are keratolytics?

- Examples include Urea, Salicylic Acid, Alpha-Hydroxy Acids

● How do they work?

- Soften the skin, and reduce the rate of hyperkeratosis

- Encourage completion of the shed skin cycle, or induce peeling

● When to use them

- Under 2 years: Only after discussion with HCPs (Urea 5-10%)

- Children and Adolescents: Urea 5% - 40% after discussion with HCPs, be wary of Salicylic Acid, and Alpha-Hydroxy Acids

- Adults: Trial and error, consider 25-40% urea, or dual keratolytics

Keratolytics

Mazereeuw-Hautier, J, et al (2018): European guidelines; BJD

Keratolytics - Urea

Cellano, L. (2018) Dermatologic Therapy; 31: e12690

Keratolytics - Urea

Keratolytics - Salicylic Acid

Madan, R. & Levitt, J. (2014) A review of toxicity from topical salicylic acid preparations. JAAD; Vol 70 (4)

FIRST (2023) https://www.firstskinfoundation.org/creams-lotions-products

FIRST (2023) https://www.firstskinfoundation.org/bathing-exfoliation

US Food and Drug Administration (2022)

https://www.fda.gov/cosmetics/cosmetic-ingredients/alpha-hydroxy-acids#q4

Keratolytics - AHAs

● AHAs are useful skin peelers

● They may cause burning, itching, and stinging due to their low pH

● They also increase the risk of sun damage to skin cell DNA

● The higher the strength, and the more frequent the use, the greater the risk of skin damage

ADULT USE ONLY

Dual Keratolytics

ADULT USE ONLY

10% Urea, 5% Lactic Acid

10% Urea, 5% Lactic Acid

10% Urea, 2% Salicylic Acid

To do a care routine or not?

Right Arm

2 weeks

-No care

-No bath

-No exfoliation

-No creams

-No Keratolytics

= Thick, Itchy, Sore, & Uncomfortable

Left Arm

2 weeks

-Usual Care

-Daily bath

-Exfoliation

-Creams

-Keratolytic

= Controlled, Comfortable, & Confident

Retinoids

● What are retinoids?

- Topical or Oral medications which down-regulate keratinocyte / keratin production

● How do they work?

- No one is entirely sure, but they work best for KRT10

New Clinical Recommendations for Ichthyosis (2020)

- Indicate that low daily doses of oral retinoids are low-risk

● New products

- New trial for Topical Isotretinoin (Timber Pharmaceuticals)

Retinoids

Retinoids

Wounds and Blisters

● Wounds from trips and falls

- Remove loose skin / skin flaps

- Disinfect

- Cover with ointment / Consider zinc paste

- Use a dressing if this is what suits, or leave without and rest

● Blisters

- Identify cause if possible, and remove source

- To pop or not to pop? De-roof or not?

- Secure the edge of the wound

- Manage as wound from now on

● Continue to bathe or not?

Wounds: Trips and Falls

Blisters

Blisters

Denyer, J., et al. (2017) Best practice guidelines for skin and wound care in Epidermolysis bullosa: An International Consensus

Blisters and Heat Trauma

EI peculiarities

Bites and Allergies

● EI Skin tends to blister when experiencing: - A local allergic reaction to an insect bite; or - A systemic allergic reaction to food or medication.

● Blisters tend to be fluid-filled and in clusters and look different to the pus-filled ones you see with infections.

● Consider an allergic reaction if:

You see a cluster of small blisters in a specific location (After playing in the garden for example); or

-

You see a rash or extensive redness alongside extensive blistering (Within 1 -2 hours of eating or taking medication)

-

EI Skin and Allergies

EI Skin & Insect Bites

Allergy to Bites

Infections

● How to recognise a local infection

- Blisters with pus or yellow exudate that forms a crust

-

Local inflammation / redness / swelling / discomfort / itch

● How to recognise a systemic infection

- Starts from a local infection or sickness (Eg. Strep throat)

- Blisters appearing often and without obvious cause

- Blisters do not seem to heal / spreading quickly ● What to do

- Local: debride the wound, disinfect, treat infection topically

Systemic: Contact HCP, always try to swab first, treat infection, potential to change Antibiotics once swab results come back

-

Bacterial & Fungal Infection

Scalp care

● Recognising the problem

- Is it cradle cap or EI, or both?

● Different approaches to management

- Shampoos / oils / creams

- Leave to soak overnight, use a muslin cloth or cotton hat

● Products and tools to try

- P&S liquid / Dermaveen / Cocois / Treatments for psoriasis

- Silicon exfoliators / Lice comb / Rough towel rub

● Frequency of care and maintenance

- Period of consecutive days then weekly maintenance

Plantar-Palmar Keratosis

Plantar-Palmar Keratosis

● Typically affects those with KRT1

- There are some with KRT10 who also have PPK

- Those with KRT9, only have PPK

● PPK has the potential to be very debilitating and affects development often

- Failure to meet usual developmental milestones (rolling over, crawling, walking)

- Difficulty with fine and gross motor control

- Pain and contractures can be problematic

● Often associated with additional care needs

-

Physiotherapy / Occupational therapy / Ergonomic support

Temperature Dysregulation

● Impaired skin barrier makes usual regulation of core temperature difficult

● Thick skin and barrier ointments block release of sweat

● Get too hot AND too cold much more quickly

● Signs of overheating - Patchy red face, scratching at neck and head, crying without obvious cause, sudden lethargy

● Signs of being too cold - Blue tinge to lips, shivering, crying without obvious cause

Temperature Dysregulation

Temperature Dysregulation

Dealing with comments

● Living with a visible difference typically invites many comments and stares from strangers

● Most people who make comments have good intentions but typically say things that can be upsetting

● Teach children to say something like: “Hello, my name is ____, do you want to learn about my skin?” to other children

● For adults who should know better than to stare, take the educational approach with something like: “My child has ichthyosis, it’s a skin condition they were born with. It’s not contagious. Do you have any questions?

Advocating for yourself

● EI is extremely rare (1 in 300,000), and this means you will often find that YOU become the expert

● Even very experienced dermatologists may have only seen 1 case of EI in their entire career, and misdiagnosis is still common

● This is even harder if you have to go to emergency care, where no one understands EI

● Use resources like this presentation to help show what is typical for EI and why you need help ●

If you are not getting the help you need, you have to be difficult and insist they reconsider, and/or seek out a second opinion

● The ISG can also help you to find an Ichthy-aware dermatologist

Travelling with EI

● It’s always best to plan ahead and be prepared

● Check luggage rules and rules for airport security such as restrictions on liquids (E.g. 100ml limit)

● Consider posting a box of supplies ahead of time

● Take a medical bag, which is a suitcase dedicated entirely to EI care supplies. Include: - Letter from dermatologist to confirm diagnosis, with description - Copy of prescription

● Explore options for bathing, including a portable bath/tub

● When camping, wild swimming is a fun bath solution!

Bathing while travelling

Life hacks

● Breakfast in the bath!

● Prepare/Cut dressings and bandages in bulk

● Use a kitchen degreaser in the bathroom

● Stand on something you can wash when applying moisturisers

● Keep a small EI first-aid kit with you on days out

● Coca-cola in the washing machine!

● Always take samples from pharma companies!

● Use bubble-wrap to teach about blister-care

Current topics of interest

● Recurrent infections

- Streptococcus particularly prevalent this year

- Seek help from specialist in infectious diseases

● Pain management

- Pain that is not directly caused by skin wounds

- Likely neuropathic pain, requires special care

- Seek help from specialist in pain management

● Autism and ADHD

- Many in our EI community are diagnosed

- Is there a genetic link, or is it induced by NICU trauma?

● Nutrition and the Gut / Skin biome

Academic References

- Suessmuth, K., Traupe, H., Metze, D., et al (2020) Ichthyosis in everyday practice: management of a rare group of diseases. J German Society of Dermatology: 225-243

- Mazereeuw-Hautier, J., Hernandez-Martin, A., O’Toole, E., (2018) Management of congenital ichthyosis: European guidelines of care - Part One. BJD

- Rout, D., Nair, A., Gupta, A., et al (2019) Epidermolytic hyperkeratosis: clinical update. Clinical, Cosmetic and Investigational Dermatology; 12: 333-344

- Foundation for Ichthyosis and Related Skin Types - FIRST (2022) Bathing and Exfoliation. Available at: https://www.firstskinfoundation.org/bathing-exfoliation

- Chamlin, S., Kao, J., Frieden, I., et al (2002) Ceramide-dominant barrier repair lipids alleviate childhood atopic dermatitis: changes in barrier function provide a sensitive indicator of disease activity. JAAD; 47 (2): 198-208

- Lill, H (2022) Ceramides Vs Ointments_Rationale for EI Skin. Available at: https://issuu.com/eicureproject/docs/ceramides_vs_ointments_in_epidermolytic_ichthyosis

- Sethi, A., Kaur, T., Malhotra, S., et al (2016) Moisturizers: The Slippery Road. Indian J Dermatol; 61 (3): 279-287

Academic References

- Kraft, N. and Lynde, C. (2005) Moisturizers: What they are and a practical approach to product selection. Skin Therapy Lett; 10: 1-8

- Ghadially, R., Halkier-Sorensen, L., and Elias, P. (1992) Effects of petrolatum on stratum corneum structure and function. J Am Acad Dermatol; 26 (3): 387-396

- Madan, R. and Levitt, J. (2014) A review of toxicity from topical salicylic acid preparations.

J Am Acad Dermatol; 70 (4):

- Oberoi, J. (2022) Types of Moisturisers: Humectants, Emollients, Occlusives. Available at:

https://lifepathdoc.com/moisturizer-a-complete-guide-from-types-to-layering/

- Pan, M., Heinecke, G., Bernardo, S., et al (2013) Urea: a comprehensive review of the clinical literature. Dermatology online journal; 19 (11)

- Cellano, L. (2018) Topical urea in skincare: A review. Dermatologic Therapy; 31: e12690

- Zaenglein, A., Levy, M., Stefanko, N., et al (2020) Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.

Pediatric Dermatology; 00: 1-17