Treatments and Caring for Ichthyosis

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Retinoids for Ichthyosis

Download The Retinoids for Ichthyosis Factsheet

What are retinoids?

Retinoids are drugs derived from Vitamin A which are used to treat a number of skin conditions. The most common are acetretin (Neotigason) for the treatment of ichthyosis and isotretinoin (Roaccutane) for the treatment of severe forms of acne.

How does acetretin help Ichthyosis?

Natural retinoids are required for normal growth and development of many cells and tissues. The process by which new cells grow and develop is called differentiation. For cells which are not growing normally additional retinoid can push their development towards normal. So for ichthyosis the acetretin will help the skin cells grow and differentiate more normally. This process of skin maturation is known as keratinization.

What is acetretin?

Acetretin is a retinoid which is a metabolite of etretinate. It has a relatively short half-life, but etretinate, which has a much longer half-life, has been detected in the blood long after the drug has been stopped. This has important implications on avoidance of pregnancy (see adverse side effects).

Acetretin is the active ingredient of Neotigason manufactured by Roche Products Ltd. It is available as capsules in two strengths: 10mg and 25mg. There is no liquid preparation.

Who should receive treatment with acetretin?

Individuals with the most severe forms of ichthyosis. It can only be prescribed and supervised by a hospital based specialist (usually a Consultant Dermatologist). Before starting treatment blood tests and X-rays will need to be performed as a baseline assessment.

Adverse effects

For females of child bearing age, pregnancy must be avoided and for at least 2 years (3 years in the US) after stopping treatment. Retinoids are potentially teratogenic, that is they can affect the baby in the womb and cause serious fetal abnormalities.
Dryness of the mucous membranes (mouth, lips, inside the nose, eyes) and peeling of the palms and soles are common. The use of a moisturising agent, especially on the lips is usually sufficient.
Occasionally blood test abnormalities can occur, such as an increase in fats (triglycerides and cholesterol) or disturbance in function of the liver. Hence the need to do regular blood tests. If an abnormality is detected, reducing the dose or temporarily stopping the drug is all that is usually necessary.
Beware of excessive sun exposure and use an appropriate high factor sunscreen.
Hair loss, which is temporary and returns to normal after the dose is reduced or the drug is stopped.
Rarely it causes some aches and pains in muscles and joints.
Longterm treatment with acetretin has been associated with certain abnormalities. This is exceptional and relates to length of treatment and high dose. If the dose is kept to a minimum and the patient is regularly supervised then this can be detected at an early stage. Normally the changes do not cause any pain or discomfort. If there is any cause for concern an X-ray would be indicated.

How long can treatment be continued?

The manufacturers recommend that continuous treatment should not last longer than 6 months; however, in clinical practice and reported studies there are now a significant number of patients who have been on retinoids for over 5 years, some for greater than 10 years. If there is a good response to treatment, acetretin can be continued safely long-term with appropriate monitoring. Intermittent treatment is preferable, if this can be achieved.

What is the future of retinoids?

Initially etretinate (Tigason) and more recently acetretin (Neotigason), have provided a significant contribution to the management of severe ichthyosis. Hopefully in the future there will be new retinoid drugs which are as effective, but even safer. A better understanding of the mechanism of action of these drugs and new advances in molecular genetics will eventually lead to more specific therapies for the ichthyoses

Contact the Ichthyosis Support Group for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice.

To find out more about the ISG or become a member please get in touch in one of the following ways:

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Skincare Treatments

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Bath Oils

are solubilising agents designed to disperse in water leaving a fine film over the entire body.
help to hydrate the skin as well as soften it.

Ointments (oil/grease)

are occlusive and have a softening protective action on the skin.
are useful for dry scaling areas.
are not water soluble and so difficult to wash off.
are not suitable for wet/weeping areas of the skin as they seal in moisture and keep the area warm, this may result in further damage to the skin.

Creams (water/oil)

mix easily with body fluid therefore drainage is not impaired.
are water soluble and easily washed off.
are soothing to dry skin.

Keratolytics

are preparations that contain salicylic acid, lactic acid and urea's. They can cause irritation to inflamed and/or broken skin and may be absorbed through the skin. Use under the guidance of a medical professional. Keratolytic agents are used to induce desquamation (shedding) of the horny layer (outside layer) without affecting the function of the epidermis.

Notes

Part of the reason the skin is dry is because it lacks moisture, therefore the aim is to hydrate the skin as much as possible.

Using bath emollients will help to soften and hydrate the skin.

Applying greasy emollients to the entire body after bathing will help to seal in moisture to the outer layer (stratum comeum), minimising cracks and fissures. These emollients should be applied at least 4 hourly by day.

The older child and adults may require medicated shampoo's designed to loosen scale. A fine comb should be used to gently remove the scale. Never be tempted to force the scale off as this can damage the root and can aggravate hair loss.

Important points to remember

Creams/ointments that do not come in a pump dispenser should be decanted out on to a saucer by means of a spoon. This will reduce the risk of contamination that may result from dipping fingers into it.

In hot weather it may be necessary to discontinue the ointments and change to a cream, as ointments can cause the sufferer to feel uncomfortable and it will also reduce the risk of overheating.

This information is for advice only, please consult your doctor before altering any treatment.

To find out more about the ISG or become a member please get in touch in one of the following ways:

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Removal of Head Scales

Download The Removal of Headscales Factsheet

Introduction

You would not be alone if you have difficultly looking after your or your child’s scalp and hair. The following information is a guide to help you decide how often to do the treatments depending on the type of hair and has been approved by a Dermatology Nurse Specialist.

Caucasian and Asian hair types - 3 treatments over 3 days or more if required
Afro Caribbean hair - 1 treatment week over 3 weeks (you can use the treatment more often if you wish)
Use your normal moisturiser or try 25% emulsifying ointment in Coconut oil, 50/50 white soft paraffin/liquid paraffin, Emulsifying ointment, to name a few.
Moisturiser containing salicylic acid may help lift scales but this may sting inflamed skin and should be used with caution. Salicylic acid is sometimes contained in hair pomades developed for Afro Caribbean hair.
As an alternative and if you have longer hair you may prefer to use products containing coconut oil or olive oil.

Equipment

Fine tooth comb
Normal tooth comb
25% Emulsifying ointment in Coconut oil or usual moisturiser
Hair bands
Hair covering e.g. scarf, Doo Rag, (can be bought in shops selling afro Caribbean hair products), old pair of tights (with the legs tied together and the legs cut off above the knot)

Method

Separate hair into 4-8 bunches using the hair bands
Starting at the base of the neck part hair using normal comb
Apply emollient to parting
Continue to part hair in small sections and apply emollient a bunch at a time until all of scalp is covered
Cover hair and leave in until the next morning
In the morning comb through hair using a fine tooth comb to lift the scales
Wash out the emollient
Repeat the above again in the evening
Continue treatment until scales have gone
Use treatment once or twice a week to reduce the build up of scales

To find out more about the ISG or become a member please get in touch in one of the following ways:

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Ear Care in Ichthyosis

Download The Ear Care For Ichthyosis Factsheet

In all other parts of the body, the superficial skin (the sqaumous epithelium) is constantly shed, usually as a result of friction from clothing or washing. This is not possible in the ear, so the ear cleans itself! Skin cells in the ear are formed at the ear drum and then they gradually move out along the ear canal. In the outer third of the ear canal there are sebaceous glands (sweat glands) which secrete cerumen. The cerumen mixes with the skin cells and this in turn forms ear wax. Most of the ear wax eventually falls out of the ears as the skin cells move out along the ear canal. Some wax in the ear canal is good, as it keeps the delicate skin of the ear canal moist and also can trap dirt and insects from entering the ear canal.

When you have ichthyosis, you have continual and widespread scaling of the skin. This can apply to the ears too. The skin scales in the ear can build up, block the ear canals and in some cases the hearing can be affected. Sometimes the skin in the ear can be managed by applying regular softening drops such as olive oil in the hope that the skin scales eventually fall out of the ear canal. If this doesn’t occur, it may be necessary for the skin scales to be removed. This needs to be done either at the G.Ps or in an Ear, Nose and Throat (ENT) department.

It is difficult to say how often that the ears will need to be cleaned out, as everyone is different. I would suggest that you try a monthly appointment and then alter accordingly.

If you feel that the hearing is affected, it would be advisable to have a hearing test.

To find out more about the ISG or become a member please get in touch in one of the following ways:

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Vitamin D

Vitamin D is a vitamin which is essential for our health and well-being. Individuals with ichthyosis, in particular ARCI, including CIE/lamellar/harlequin ichthyosis, and epidermolytic ichthyosis, are at risk of Vitamin D deficiency.

Download the full information leaflet

All you need to know about Vitamin D

Professor Edel O’Toole

Introduction

Vitamin D is a vitamin which is essential for our health and well-being. Individuals with ichthyosis, in particular ARCI, including CIE/lamellar/harlequin ichthyosis, and epidermolytic ichthyosis, are at risk of Vitamin D deficiency. Vitamin D is particularly important for bone health, but in recent years has been shown to play an important role in boosting the immune system. 90% of our Vitamin D is synthesized in our skin by exposure to sunlight. Only about 10% comes from food.

Figure 1: How the body processes Vitamin D made in the skin. Adapted from: www.mindthegraph.com.

Vitamin D containing food

Oily fish (sardines, herring, trout, tuna, salmon, mackerel)

Egg yolk

UV irradiated mushrooms (usually dried or put mushrooms in a sunny window)

Cod liver oil

Liver

Infant formula milk, most margarines and some cereals (have added Vitamin D)

What is a healthy level of vitamin D?

We get 90% of our vitamin D from sunshine, 10% from food and/or dietary supplements. There are two forms of vitamin D: sunshine and animal foods provide vitamin D3 while plant food sources and fortified foods eg infant formula supply vitamin D2. The only way to know if you are getting enough is a blood test. The report usually gives Vitamin D3 level, sometimes Vitamin D2 level or total vitamin D level which is Vitamin D3 plus Vitamin D2. The result is given as either nanomoles per liter (nmol/L) or nanograms per milliliter (ng/mL). One nmol/L is the same as 0.4 ng/mL.

Vitamin D level (nmol/L)	Vitamin D level (ng/ml)	Is it enough?	Health outcome
>125 nmol/L	>50 ng/mL	Too high	Might cause health problems
75 nmol/l	30 ng/ml	Ideal to aim for	Optimal bone and overall health
50 nmol/L	20 ng/mL	Adequate	Sufficient for bone and overall health
>30 nmol/L but less than 50nmol/L	12-20 ng/ml	Inadequate	Insufficient for bone and overall health
<30 nmol/L	<12 ng/mL	Deficient	Might weaken your bones and affect your health

Who gets vitamin D deficiency?

Vitamin D deficiency means that there is not enough vitamin D in your body. This may be for one of 3 reasons (all three may apply to individuals with ichthyosis, depending on their circumstances):

You have an increased need for vitamin D

Growing children, pregnant women, and breast-feeding women need extra vitamin D because it is required for growth. Patients with severe forms of ichthyosis eg CIE/lamellar are often in this category. We do not understand why.

Your body is unable to make enough vitamin D

People who get very little sunlight on their skin are at risk of vitamin D deficiency. This is more of a problem in the northern parts of the world (including the UK) where there is less sun.

In particular:

People who are in hospital or stay in their home.
People who cover up a lot of their body when outside.
The strict use of sunscreen may increase the risk of vitamin D deficiency, particularly if high sun protection factor (SPF) creams (factor 15 or above) are used. However, there is no evidence that the normal use of sunscreen does actually cause vitamin D deficiency in real life. Everyone, especially children, should always be protected from sunburn.
People who have darker skin are not able to make as much vitamin D.
Some medical conditions can affect the way the body handles vitamin D. People who are overweight or obese, people with Crohn's disease, coeliac disease, and some types of liver and kidney disease, are all at risk of vitamin D deficiency.

Your diet does not provide enough vitamin D

Vitamin D deficiency is more likely to occur in people who follow a strict vegetarian or vegan diet, or a non-fish-eating diet.

Symptoms of Vitamin D deficiency

Adults: Many people have no symptoms, or may complain of symptoms such as tiredness, hair loss or aches and pains. In more severe deficiency, there may be bone pain and muscle weakness.

Children: Children with severe deficiency may have soft skull or leg bones. Their legs may look curved (bow-legged). They may also complain of bone pains, often in the legs, and muscle pains or muscle weakness. This condition is known as rickets.

Poor growth. Height is usually affected more than weight. Affected children might be reluctant to start walking.

Tooth delay. Children with vitamin D deficiency may be late teething, as the development of the milk teeth has been affected.

Children with vitamin D deficiency are more prone to infections.

Prevention of Vitamin D deficiency

Public Health England recommends that everyone over the age of 1 year takes Vitamin D 400 iu daily (10 µg daily) between October and April. This might not be enough if you don’t get out in the sunshine in summer.

Treatment of Vitamin D deficiency

Vitamin D supplements are usually given as Vitamin D3, which I will refer to as Vitamin D. 1000 iu= 25 µg

18 months- 12 years Vitamin D 3000 iu (75 µg) daily for 3 months, then 1000 iu (25 µg) daily to prevent recurrence

Over 12 years Vitamin D 5000 iu (125 µg) daily for 3 months, then 1000 iu (25 µg) daily to prevent recurrence

However, someone with ichthyosis with darker skin who covers up might need Vitamin D 3000 iu (75 µg) daily for life. This can be taken as 3000 iu daily or alternatively 20,000 iu weekly.

I would advise patients with ichthyosis to request their doctor to check their vitamin D level, treat any deficiency as above and then repeat bloods in 1 year. If adequate, should continue on vitamin D 1000 iu daily. If still <30 nmol/L probably needs 3000 iu daily, if more than 30 but less than 50 nmol/L 2000 iu daily. All individuals who have inadequate or deficient Vitamin D levels need to stay on Vitamin D for life.

Examples of Vitamin D supplements available

For infants and toddlers up to the age of 4, Dalivit or Abidec drops can be used. Some families with lower incomes will qualify for these under the Healthy Start scheme. In general GPs will prescribe high dose vitamin D for those who are deficient, but they may not continue to prescribe preventative supplements. Vitamin D 1000 iu daily capsules are available cheaply from Boots or Sainsburys.

Some individuals who need a higher dose of vitamin D opt to use DLUX spray 3000 iu daily (1 spray under tongue) or 20,000 iu capsules, one weekly.

Are there any risks to taking vitamin D supplements?

In general, in children over the age of 12 and adults, Vitamin D up to 4000 iu daily will do no harm.

Care is needed with vitamin D supplements in certain situations: If you are taking certain other medicines: digoxin (for an irregular heartbeat - atrial fibrillation) or thiazide diuretics such as bendroflumethiazide (commonly used to treat high blood pressure). In this situation, avoid high doses of vitamin D, and digoxin will need monitoring more closely.

If you have other medical conditions: kidney stones, some types of kidney disease, liver disease or hormonal disease. Discuss with your doctor.

Vitamin D should not be taken by people who have high calcium levels or certain types of cancer. Again, discuss with your doctor.

Vitamin D and Covid19

There is evidence that individuals hospitalized with Covid19 have lower levels of Vitamin D. This is another good reason to ensure that your Vitamin D levels are adequate and take Vitamin D supplements.

My experience of vitamin D

Most of my patients over the age of 12 with ichthyosis who have previously been deficient are advised by me to take vitamin D 20,000 iu weekly. Many of them probably take it about half of the time ie every 2 weeks and in general those that take it have a normal vitamin D level and feel better for taking it. Some patients have had an improvement in their general wellbeing and think that they are a bit less red when they take vitamin D regularly. I take vitamin D 20,000 iu weekly myself and a box of 30 capsules usually lasts me over a year ie I probably take it every 2 weeks. I know when my vitamin D is getting low because my left hip gets sore!

Acknowledgement: I am grateful to Professor Celia Moss for commenting on this short article.

More information: https://www.hsph.harvard.edu/nutritionsource/vitamin-d/

https://patient.info/bones-joints-muscles/osteoporosis-leaflet/vitamin-d-deficiency

Udrate Cream

We have received information about a new product similar to the discontinued Calmurid, and the following is for your information and guidance.

We have received information about a new product similar to the discontinued Calmurid, and the following is for your information and guidance.

It is available on prescription so talk to your doctor about getting it prescribed.

We have updated guidance that may help you get hold of Udrate. Emis, the prescribing database that updates GP’s prescribing system has experienced a delay at their end in updating the system and is due for March update. They had a technical glitch wherein the product got delisted when the old entry for Calmurid came off Drug Tariff and they had to reupdate their database. This has caused an issue in GP’s being able to view product to prescribe. Please note: We have been told to suggest GP’s to put out handwritten scripts in the interim while the databases are updated. The PIP code for the product is PIP: 4162178.EAN: 5060254925103Wholesalers: Alliance, AAH

Please patch test any new product for sensitivity.

UDRATE

The cream with 10% Urea and 5% Lactic Acid

Fragrance and colourant free.

UDRATE is manufactured by Ennogen Healthcare Limited, Unit G2 - G4, Riverside Industrial Estate, Riverside Way, Dartford, DA1 5BS, UK.

Ingredients:- Aqua (Water), Urea, Lactic Acid, Caprylic/Capric Triglyceride, Methyl Glucose Sesquistearate, Glycerin, Isopropyl Isostearate, Olus Oil, Butyrospermum Parkii (Shea) Butter, Lanolin, Isopropyl Myristate, Glyceryl Stearate, Cetearyl Alcohol, Pentylene Glycol, Triethyl Citrate, Camelina Sativa Seed Oil, Allantoin, Panthenol, Tocopheryl Acetate, Hydroxyethyl Acrylate/Sodium Acryloyldimethyl Taurate Copolymer, Polyacrylate Crosspolymer-6, Hydroxyacetophenone, Amino Methyl Propanol, Citric Acid.

Product size; 100g

Do not use on damaged and sensitive skin. Do not use on face.

Recommended for adults and children over 3 years old.

Warning: Avoid contact with eyes, eyelids, lips and other mucous surfaces.

Store at room temperature. Do not refrigerate or freeze.

Treatments Used in Ichthyosis

Download The Treatments Used in Ichthyosis Factsheet

Moisturisers Largest Product Size Available Manufacturer

Alcoderm Cream 60g Galderma

Alcoderm Lotion 200ml Galderma

Aqueous Cream 500g Proprietary

Aveeno Cream 100ml Bioglan

Cetraben 500g Pharma Healthcare

Decubal Clinic 50g Alpharma

Dermol (Antiseptic) Lotion 500ml Dermal

Dermamist (Spray)* 250ml Yamanouchi

Dexeryl 250g Pierre Fabre

Diprobase Cream 500g Schering-Plough

Diprobase Ointment 50g Schering-Plough

Doublebase 500ml Dermal

E45 Cream 500g Crookes Healthcare

Epaderm 500g Molnlycke

Keri Lotion 380ml Westwood

Lipobase Cream 50g Yamanouchi

Neutrogena Dermatological

Cream 100g Johnson & Johnson

Oilatum Cream 500ml Stiefel, a GSK company

Oily cream (Hydrous Ointment) 500g Proprietary

Ultrabase Cream 500g Schering Healthcare

Unguentum Merck Cream 500g Crookes Healthcare

Vaseline Dermacare Cream 150ml Elida Faberge

White Soft Paraffin/

Liquid Paraffin (50/50) 500g Proprietary

Bath Oils Largest Product Size Available Manufacturer

Alpha Keri 480ml Westwood

Aveeno Bath Emollient 250ml Johnson and Johnson

Aveeno Collodial Sachets Johnson and Johnson

Balneum Bath Oil 500ml Almirall

Balneum Plus Bath Oil 500ml Almirall

Dermol 500ml Dermal

Dermol 500 500ml Dermal

Dermol 600 600ml Dermal

Diprobath 500ml Schering-Plough

E45 Bath Oil 500ml Crookes Healthcare

Emulsiderm 1L Dermal

Hydromol 1L Alliance

Imuderm* 250ml Goldshield Healthcare

Infaderm 250ml Ceuta

Oilatum 500ml Stiefel, a GSK company

Oilatum Plus 500ml Stiefel, a GSK company

Oilatum Fragrance Free 500ml Stiefel, a GSK company

Creams and Lotions with Urea Largest Product Size Available Manufacturer

Aquadrate 100g Proctor & Gamble

Balneum Plus Cream 100g Almirall

Calmurid Cream 500g Galderma

Eucerin Cream 5% 200ml Beiersdorf

Eucerin Cream 10% 150ml Beiersdorf

Eucerin Lotion 3% 250ml Beiersdorf

Eucerin Lotion 10% 250ml Beiersdorf

Nutraplus 100g Galderma

Creams

and Lotions with Lactic Acid Largest Product Size Available Manufacturer

Calmurid Cream 500g Galderma

Scalp Treatments Largest Product Size Available Manufacturer

Alphosyl 250ml Stafford-Miller

Capasal 250ml Dermal

Cocois* 100g Celltech

Dermax* 250ml Dermal

Nizoral Shampoo 120ml Janssen-Cilag

Olive Oil Readily available

Polytar Liquid* 500ml Stiefel, a GSK company

Polytar Plus* 500ml Stiefel, a GSK company

Polytar AF* 150ml Stiefel, a GSK company

Salicylic acid preparations Consult your doctor

T-gel Shampoo 250ml Johnson & Johnson

How Greasy are the Products?

Very Greasy Greasy Less Greasy Mild

White Soft Paraffin/ Ungeuntum Aveeno Cream Aqueous Cream

Liquid Paraffin (50/50) Merck Cream Dermol Lotion

Hydrous Ointment Neutrogena Diprobase Cream

Diprobase Ointment Dermatogical E45 Cream

Dermamist Spray* Cream Ultrabase Cream

Epaderm Oilatum Cream Lipobase Cream

Hydromol cream Cetraben Cream

Vaseline Alcoderm Cream/lotion

Dermacare Doublebase

Cream

Please note the products denoted with a * contain nut oil/s.

Sunscreens

Always use a high factor sunscreen product e.g. 25,25, 50. Those formulated for children and for sensitive skin are more suited for more ‘fragile’ skin. You should always patch test a product – ask the chemist if they have any samples you could try before purchasing a sunscreen product. A small number of the companies listed in this leaflet produce sunscreen products. Some brands are available on prescription e.g. E45 or Uvistat.

As with any products, moisturisers, bath oils etc are discontinued and new products manufactured constantly and this list is not an exhaustive list of all the products used in the treatment of ichthyosis. Product licences change resulting in different companies manufacturing and/or distributing products. Please ask your pharmacist about the range of products available.

This information is for advice only, please consult your doctor before altering any treatments.

To find out more about the ISG or become a member please get in touch in one of the following ways:

By Phone

0845 602 9202

By Email:

By Post:

Ichthyosis Support Group

PO Box 1242, Yateley GU47 7FL

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Eye Management in Ichthyosis

Download The Eye Management Factsheet

Ichthyosis and eye care

Raman Malhotra

Consultant Ophthalmic and Oculoplastic Surgeon

Corneoplastic Unit

Queen Victoria Hospital NHS Foundation Trust

Importance of eye care in ichthyosis

The primary aim of eye care for adults and children with ichthyosis is to maintain moisture, integrity and clarity of the cornea (transparent part of the eye) and surface of the eye. There is a high risk of the cornea becoming dry and developing an epithelial defect (a breach in its protective surface) that may result in an infection of the cornea. Infections of the cornea may result in a scar that reduces the clarity of the eye, or at worst a perforation of the cornea. The surface of the cornea requires a moist tear-film on its surface in order to provide a clearer-than-glass window for vision. Blinking is a natural method of ensuring this moist tear-film is smoothly spread and maintained over the entire surface of the eye. Any redness of the eye should raise suspicion of dryness, particularly if blink or normal full eyelid closure is incomplete, as is often seen in ichthyosis. In addition, the first 8-9 years of life also represents the critical period for visual development. During this period, the brain requires the clearest image to be transmitted through the eye in order for the visual pathway (circuit from eye to brain) to develop into a high-definition visual system. Any prolonged blurring of vision, due to a scarred or hazy cornea or any uncorrected refractive error (not wearing glasses for long-sightedness, astigmatism or even short-sightedness) during this period will result in vision that will remain blurred throughout one’s adult life. Thankfully, with the involvement of an ophthalmologist (eye specialist) this can be identified and treated, or better still, avoided. It is therefore rare nowadays to occur. In adults, a contrary response to evaporative-type dry eye is reflex tearing. This may be considered as the body’s response in attempting to lubricate the drying surface of the eye. Individuals who experience this may not have significant symptoms of ocular discomfort or redness of the eye. Reflex tearing may occur outdoors in cold and windy weather or in a dry, air-conditioned environment. The eyes may remain white in appearance, or in extreme conditions become pink. However, they seldom become red or cause pain.

Preservative-free ocular lubrication.

If incomplete blink or eyelid closure exists, then regular eye lubrication with artificial tears is essential. Preservatives are a legal requirement for eye drops in multi-dose containers and may be necessary for stabilization of eye drops. However, they often act in a non-specific manner as detergents or for unknown reasons occasionally cause side-effects on the surface of the eye such as redness, inflammation, irritation and discomfort. Prolonged use of certain preservatives (i.e. Benzalkonium chloride, BAK) on the eye may cause long-term surface scarring due to toxicity. Preservative-free artificial tear eye drops are strongly recommended for patients who require frequent eye drops.

Examples of lubricants to use include 0.5–1% carboxymethylcellulose, hyaluronic acid (HA) or carmellose-sodium, and petroleum ointment at night if nocturnal lagophthalmos (incomplete eye closure when sleeping) exists. These are available under many brand names. As a principle, eye drops are used in the day and an ointment at night. If blink or eyelid closure is incomplete, then frequency of drops required may be intensive (even every 30 minutes or less). This regime will be guided by your ophthalmologist (specialist eye doctor). In certain situations, ointment may be necessary during the day to ensure a moist eye surface and white-eye is maintained.

General measures

Room humidifiers help maintain a moist environment for dry eyes. A meta-analysis including 7 trials, aimed to evaluate the effect of a moisture chamber compared with lubrication for corneal protection in critically ill patients concluded the use of moisture chambers is associated with more effective corneal protection compared with lubrication alone but no statistically significant difference between the use of moisture chambers and lubricating ointments. (Zhou Y et al. 2014) Intensive ointments however, can significantly blur vision and are not practical as a permanent, long-term option.

Wrap-around glasses for dry eyes are an excellent method of increasing humidity around the surface of the eye, in order to create a moisture chamber effect. These are an ideal style of spectacle frame when spectacle-wear is necessary, for adults and children with ichthyosis. In addition, they are an excellent choice of frame for sunglasses.

Eyelid moisturising and stretching

Conservative treatment with intensive ocular lubricants, eyelid emollients and massage can result in improvement of eyelid ectropion and to some degree retraction of the eyelid. Retraction of the eyelid describes how in addition to the eyelid being turned out (ectropion), it is usually pulled down (or, retracted) due to tight skin. The upper eyelid may also be retracted (or pulled up), preventing eyelid closure during blink, or when asleep.

Regular stretching of the eyelid skin and application of eyelid emollients can avoid the need for eyelid surgery in mild forms of congenital ichthyosis. Resolution of ectropion of all 4 eyelids (that was more obvious during enforced eyelid closure) was reported in a premature male baby with frequent application of eyelid ointment and spontaneous desquamation. (Menke TB et al. 2006) Severe ectropion of all 4 eyelids in a child with Lamellar ichthyosis (LI) was reported to have reduced with preservation of the ocular surface using regular lubricant drops, vitamin A ointment and intermittent topical antibiotic therapy. No surgery was required during the reported follow-up period. (Elshtewi M and Arche DB 1991)

Another example has been reported (Oestreicher JH and Nelson CC 1990) in 2 infants with LI, aged 2 and 6 weeks, with ectropion and retraction of all 4 eyelids causing signs of drying of the cornea. Ectropion improved within 3 months with conservative treatment of ocular lubricants, eyelid emollients and massage. Based upon the photographs in their report, eyelid retraction still existed as would have incomplete blink closure, however this required lubricants only within the follow-up period reported. Some improvement with conservative management including humidified air and emulsifying agents was reported in another case. (Leung PC and Ma GF 1981) However, the child still required skin grafts to all 4 eyelids and repeat grafts 18-months later due to recurrence.

Evidence does suggest, therefore, that consistent and life-long vertical lid massage and stretching may help delay progression or recurrence of ectropion due to retraction of the eyelid.

Meibomian gland dysfunction

Meibomian gland dysfunction (MGD) is likely to occur in most cases of ichthyosis even if not specifically documented. The meibomian glands exist on the eyelid margin and normally produce the oily layer of the tear film. Absence of the normal oily layer of the tear film causes the tears to evaporate too quickly. This contributes to evaporative-type dry eye further and to symptoms of photophobia (intolerance to bright lights) and discomfort, soreness or itchiness of the eyes. This can increase the likelihood of the presence of corneal punctate staining (evidence of drying of the cornea when examined by an eye specialist) and even corneal scarring. At best, MGD may simply increase symptoms of reflex tearing without any eye discomfort. Simple treatment options for MGD involves a daily regime of expressing the oily tears from the glands using hot compresses. A face cloth, or cotton pads, soaked in hot (not boiling) water may be used. On closed eyes, hold the hot cloth onto the eyelids. Wet the cloth again with hot water and keep applying the compress for at least five minutes. This can be carried out daily, perhaps in the evening. Products known as ‘heat bags’ that are specifically designed for this condition may be easier to use with more prolonged heat. These bags make it easier to direct the heat and are much more effective than a hot cloth. Examples include the MGDRx EyeBag®, the Eyevolve Mask® or the OPTASE™ Heat Mask.

There is also evidence of a benefit in maintaining optimum levels of omega-3 essential fatty acids in the diet for improving MGD. (Macsai MS 2008) It is also suggested that individuals should return to a more desirable omega-6 to omega-3 ratio of 4:1 rather than the ratio of 15–18:1 provided by current Western diets. This entails decreasing the intake of omega-6 fatty acids from vegetable oils and to increase the intake of omega-3 fatty acids by using oils rich in omega-3. Experimental studies suggest that dietary supplementation of omega-3 fatty acids modifies inflammatory and immune reactions. (Macsai MS 2008) More carefully designed and controlled clinical trials to determine the real benefit of omega-3 fatty acids in MGD and evaporative-type dry eye are still needed, but the current medical consensus recommends a trend towards this diet for dry eye patients, if given a preference.

Topical cutaneous N-acetylcysteine emollient

Topical N-acetylcysteine has anti-proliferative effects on keratinocytes both in-vitro and in-vivo. It may have a role in the management of eyelid ectropion in children with Lamellar ichthyosis. Bassoti et al (Bassoti A et al 2011) reported the use of topical 10% N-acetylcysteine emulsion prepared in urea 5% in 5 children with LI.

The emollient was applied twice daily for 6 weeks, followed by a daily maintenance application including the eyelids without any irritation (provided the skin had no fissures). With up to 4-years follow-up, they observed a significant improvement in all treated areas after 4 months of maintenance application. Only two patients showed mild adverse effects such as itchiness (resolving after a few days in one patient), and light burning and irritation that regressed a few days after tapering N-acetylcysteine to 5% on the facial application.

Gicquel et al (Gicquel JJ et al. 2005) reported what they described to be complete resolution of ectropion with adjunctive topical N-acetylcysteine in an 8-week-old boy with LI and severe bilateral ectropion. Bilateral sight-threatening upper eyelid ectropion persisted whilst receiving initial treatment with only oral acitretin for 1 month until N-acetylcysteine was added, thus avoiding the need for surgery.

Deffenbacher (Deffenbacher B 2013) reported the initial use of 10% N-acetylcysteine and 5% urea in a newborn with LI, who initially failed to improve with standard treatment of topical emollients. After 3 days of once daily use, the mother noted some decreased thickness of scales, but also noted increased skin sensitivity and erythema. The 10% cream was discontinued. Two-days after discontinuation of the topical treatment, it was noted that the skin was less tight and scales were less thick than the month before. A less-potent mixture with 5% N-acetylcysteine and 5% urea compounded in a moisturising skin cream in addition to the continued frequent use of emollients was commenced. One month later, the infant was able to close his eyes whilst sleeping and had significantly improved with only mild erythema. At 7 and 12-months, continued improvement was observed in scaling and eyelid involvement.

Topical retinoids to treat eyelid ectropion

Systemic retinoids modulate keratinocyte differentiation and proliferation with only a modest therapeutic effect in eyelid ectropion or retraction due to ichthyosis (Diaz LZ et al. 2013). Tazarotene, a topical retinoid, works via binding of retinoic acid receptors in the skin. The beneficial use of tazarotene in congenital ichthyosis has been reported (Hofmann B et al 1999, Stege H et al. 1998, Marulli GC et al. 2003, Kundu RV et al 2006). Craiglow et al (Craiglow BG et al. 2013) reported the use of topical tazarotene cream, 0.1%, applied once daily to the face and eyelids in a 77-year old female with autosomal recessive ichthyosis and bilateral lower eyelid cicatricial ectropion. A rapid improvement within 2-weeks was observed and reported at 12 and 30-months of treatment. In their report, the authors also mentioned a 45-year-old man with severe LI and symptomatic ectropion who was reluctant to take oral retinoids and whose ectropion and tearing significantly improved with topical retinoid and later tazarotene cream, applied to the lower eyelids.

Surgical treatments

Patients with chronic corneal involvement or persistent corneal dryness require specialist eye care. Severe or persistent ectropion requires correction and this may involve increasing the amount of eyelid skin available for eyelid closure. For the best outcomes, an experienced ophthalmic plastic surgeon (or oculoplastic surgeon) should be involved.

Eyelid skin grafting

Eyelid skin grafting is generally undertaken where symptomatic corneal exposure or watering persists despite adequate conservative skin treatments. It should also ideally be undertaken before scarring of the ocular surface occurs. Skin grafts are the most commonly reported surgical intervention for ichthyosis ectropion. The successful use of both full-thickness and split-thickness autologous skin grafts have been reported in correcting either eyelid ectropion, or retraction. Harvest sights for full-thickness grafts include the upper arm, behind the ear, collar bone region, thigh, groin, and even penile foreskin. Regardless of harvest site, repeat surgery due to skin graft contracture is often necessary. In one reported article, 4 patients required 19 surgical graft procedures, 10 of which were to upper eyelids involving grafts harvested from inner arm, behind the ear, the collar bone region and groin sites. Split-thickness skin grafts in a 25-year old has also been reported. Successful use of behind-the-ear and thigh full-thickness skin grafts have also been reported in 6-week and 6-month old babies, respectively, with Harlequin ichthyosis.

Oral buccal mucous membrane autogenous graft

Based upon the observation that in long-standing eyelid ectropion, keratinizing squamous metaplasia occurs in the tarsal conjunctiva (transformation of the inner moist lining of the eyelid to become a skin-like surface), in 2001, Soparkar and Patrinely (Soparkar DN and Patrinely JR 2001) wrote a letter describing and recommending the use of oral buccal mucous membrane (the moist inner lining of the cheek) in preference to skin for grafts of 1.5 cm or less of vertical height. This avoids delayed-healing donor-sites as oral mucosa is unaffected by ichthyosis. The authors did not report any specific cases in their letter but reported that they have used this approach for many years and showed photographs of an 8 year-old boy, 2 months and 2 years post upper and lower grafting, respectively. Once implanted into the eyelid, mucous membrane grafts rapidly keratinize (become like skin) with little desquamation or significant contraction. Nayak et al (Nayak S et al. 2011) have also reported the use of oral mucosal grafts as a skin substitute in a 26-year old female with LI and ectropion of all 4 eyelids. Left upper and lower eyelid defects were grafted from the left cheek and 4-months later, right eyelids from the right cheek. In the absence of available autologous skin, where non-surgical methods have proven in-effective, oral buccal mucous membrane autografts are a useful source of tissue to expand the eyelid skin layer.

Hyaluronic acid gel filler

In 2009, Taban et al (Taban M et al. 2009) reported their early experience using hyaluronic acid gel fillers as a nonsurgical alternative in the management of congenital eyelid malpositions including eyelid retraction, ectropion and other eyelid disorders. Filler helps improve eyelid position by tissue-expansion and reinforcement to improve eyelid closure, with faster recovery and fewer complications in comparison to traditional surgical procedures. Five patients treated demonstrated significant improvement of eyelid position and degree of corneal dessication with a mean improvement in the gap of incomplete eyelid closure of 4.5 mm (range, 2–7 mm) using an average of 0.5 ml hyaluronic acid gel per eyelid. Complications were minor, including transient swelling and bruising at the sites of injection.

In 2015, my team (Litwin AS et al. 2015) reported the use of this technique in 3 boys (4-months to 3-years of age) with LI and sight-threatening eyelid retraction and cicatricial ectropion of all 4 eyelids. In 2 cases treated by myself, Restylane-Lidocaine^® (Galderma, UK) 1 mL per eyelid was used successfully with resolution or good improvement of lagophthalmos, corneal exposure and visual acuity and no repeat eyelid procedures required after 7 and 18 months, respectively. In the third, less successful case treated in Leeds, Restylane SubQ^®(Galderma, UK) was used. However, SubQ^® is not an ideal choice for use in the eyelid as it contains 1,000 molecules per 1ml, in comparison to 100,000 molecules per 1 ml for Restylane Lidocaine^®, making it significantly denser and more viscous. It is better intended for deep subcutaneous or pre-periosteal injection to allow more extensive facial volume augmentation and structural support. This patient underwent repeat injections 5 and 12 months later, finally requiring skin grafts.

The technique for hyaluronic acid injections is similar to that described by Taban et al (Taban M et al. 2009). Injections can be performed under general anaesthesia for children at the same time as an examination. It can be an effective, repeatable method of eyelid expansion in ichthyosis that can act as a good temporising method, often delaying the need for more invasive surgical procedures. It can give rise to the appearance of fullness of the eyelid. It should however, only be undertaken by those experienced with fillers in the eyelid region.

Conclusion

This article provides advice and evidence for current options available for the eye care of patients with ichthyosis. It may also prove useful when discussing options available for your child or yourself with your specialist team of doctors. Simple measures such as humidifiers, wrap-around glasses, regular vision checks until the age of 9-years of age, preservative-free lubricants, eyelid emollients and stretching and MGD treatment are essential. Newer options such as topical N-acetylcysteine emollient and topical retinoids may be discussed with your dermatologist. When faced with the prospect of surgery, options such as buccal membrane grafts and eyelid filler may also be considered as alternatives to skin grafts, at least in the first instance. Life long eye care is often required for dry eyes. The currently available options outlined above are applicable to both children and adults.

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