a guide to the condition and its management -...

Living with ichthyosis A guide to the condition and its management

IchthyosisIchthyosis describes a group oflong-term conditions in which theskin is dry and scaly. The wordichthyosis comes from the Greekwords meaning ‘fish’ and‘disease’. Unlike dry skin conditions suchas eczema and psoriasis, thescaling found in ichthyosis iscontinuous and can affect thewhole body. The skin may alsobe inflamed or thickened. Theskin always peels but in someforms it may also blister.

There are many different typesof ichthyosis and some aredescribed here in more detail.

Image courtesy of DermNetNZ.org

Who gets ichthyosis?Ichthyosis is rare and usually inherited but sometimesmay be acquired as the result of another medicalcondition. Most types of ichthyosis are congenital,meaning they run in families and are present frombirth. It is not contagious.The inherited (genetic) types tend topersist throughout life – although somemilder types may improve with age. Thesigns and symptoms of inheritedichthyosis usually appear at birth orwithin the first year of life.

Acquired ichthyosis may develop at anyage and may be associated with otherillnesses, but this is rare.

What are the symptoms?Symptoms vary considerably betweendifferent people and between differenttypes of ichthyosis. Mild forms likeIchthyosis vulgaris may appear as dryskin affecting hands, feet and someareas of the skin whilst others affect thewhole body.

The skin may be reddish and flaky orbrownish and scaly but in most caseswill be covered in plate-like scales. Hairand nail growth may also be affected.

What causes it?The skin is constantly regenerating byshedding and replacing cells. This iscontrolled by genes. There may be amistake or mutation in the geneswhich means the process ofshedding and replacement of skincells doesn’t happen properly.

Different types of ichthyosis arecaused by mutations in differentgenes. In some mutations, the skincells are produced too quickly andthey pile up on the surface of the skin,which leads to thickened skin.

In other forms, the skin cells areproduced at a normal rate but the toplayers are not shed to make way forthe new skin cells, so they build up inlayers.

Whether old skin cells are shed tooslowly or new skin cells arereproducing too quickly, the result is abuild-up of the rough, scaly skincondition known as ichthyosis.

Ichthyosis vulgaris (IV)Ichthyosis vulgaris (IV) is the most commonform of ichthyosis and affects between onein 100 to 250 people. It is usually quite mildand develops in early childhood with fine,light grey scales and roughness on theupper and lower limbs, but sparing the foldsof the arms and legs.

It may be more widespread and moreobvious in the winter time. It is sometimesassociated with atopic or childhood allergiceczema and may cause an increasedwrinkling of the palms and soles.

X-linked (recessive)ichthyosis (XLI)X-linked (recessive) ichthyosis (XLI) onlyaffects boys (fewer than one in 2,000) andappears in the first few months after birth.Brownish, flat scales are seen particularlyover the arms, legs and tummy. It may alsoaffect the ears and face. It varies in severityand may improve in summer or sunnyweather.

Epidermolytic ichthyosis (EI)Epidermolytic ichthyosis is also known asBullous congenital ichthyosiformerythroderma (BCIE) or Epidermolytichyperkeratosis (EHK). It appears at or soonafter birth with blistering, fragile, red, shinyskin. This is later replaced by thick scalingespecially around the joints. Although thescale lifts off quite easily the skin underneathmay be painful and skin infections are quitecommon. It is a rare condition and occurs in1 in 100,000 babies.

Netherton syndrome (NS)Netherton syndrome (NS) affects 1 in200,000 babies. Red, inflamed, itchy, scalyskin is present from birth. It can vary inseverity and may affect all areas of the bodyor just be present in patches. The hair maybe sparse, brittle and spiky.

Autosomal recessive congenitalichthyosis (ARCI) is an umbrella termreferring to a group of conditions thatshare a similar genetic pattern and acollodion membrane presentation at birth.

After shedding of the collodionmembrane, the skin can show a variety ofappearances. Although still rare, the mostcommon types are Non-bullousichthyosiform erythroderma, Lamellarichthyosis and Harlequin ichthyosis.

ARCI are rare disorders estimated tooccur in about 1 in 200,000 births.

Non-bullous ichthyosiformerythroderma (NBIE)

Non-bullous ichthyosiform erythroderma(NBIE) is also known as Congenitalichthyosiform erythroderma (CIE).

It is generally seen at birth with theappearance of a collodion membrane on thenewborn baby. This is a shiny film stretchedacross the skin, which dries out and isgradually shed during the first week of life.

The skin is red and inflamed without blistersbut with fine white scales affecting the wholebody including the scalp. It is a rarecondition and affects 1 in 300,000 babies.

Lamellar ichthyosis (LI)

Lamellar ichthyosis (LI) occurs in 1 in100,000 babies and is a rare condition.

At birth, the baby will have collodion skinwhich is shed within a few days. This isfollowed by scaling all over the body andscalp, with particularly large brown scales onthe limbs and torso. The skin may be itchybut is not always red. There are manysubtypes of LI and CIE which overlap inappearance

Harlequin ichthyosis (HI)

Harlequin ichthyosis (HI) is extremely rare,but the scaling is severe and requiresintensive care at birth. Thick plates of scalesaffect the whole body including the face.The thick tight skin can block the ears andnostrils and may prevent the eyes fromshutting.

Autosomal recessive congenital ichthyosis (ARCI)

The main aim of treatment is toimprove skin condition and to make itless dry and scaly. This will help theskin to feel more comfortable.

Treatment involves moisturising, andin some conditions, exfoliating theskin every day to prevent dryness,scaling, cracking and the build-up ofskin cells. Some of the more commonforms of ichthyosis can be mild andmay improve in the summertime.

Your dermatologist, nurse or GP willprescribe or recommend suitableemollients to use for washing andmoisturising by applying directly to theskin to reduce water loss and cover itwith a protective film.

EmollientsEmollients may take the form of a cream,ointment, lotion or bath oil. The bestemollient is the one that suits your or yourchild’s skin condition – your healthcareprofessional should give you the opportunityto try a variety of emollients.

They are available in many sizes and typesof container, but the most important thing isto ensure you have a sufficiently largequantity of your preferred emollient.

Your healthcare professionalmay prescribe an emollient oryou can buy one over thecounter at a pharmacy.

If you or your children need touse an emollient regularly, it's worth keepinga good supply at home, school or work. Anemollient should be applied every four hoursduring the daytime.

Emollients should be used as soapsubstitutes. Soap, bubble baths andcosmetic washes should be avoided as theywill dry the skin and affect the skin barrier.

Types of emollientBath Oils leave a fine film ofmoisturiser all over the body. Thishelps to hydrate and soften the skin.

Ointments are greasy emollientswhich may be useful for dry, scalyareas of skin. They have a softeningand protective action on the skin, butare not suitable for wet or weepingareas.

Creams/lotions are a mixture of oiland water. They are soothing to dryskin and unlike ointments are easy towash off.

Other treatmentsExfoliating cream

In addition to emollients, you or your childmight be prescribed an exfoliating cream orkeratolytics, which are used to break-downand reduce thicker scales.

This may contain urea, lactic acid and otheralpha hydroxy acids to help exfoliate theskin. They may irritate the skin and shouldonly be used under close medicalsupervision.

Medicated shampoo

Older children and adults may need aspecial medicated shampoo designed toloosen scaly skin on the scalp.

Retinoid tablets

Retinoid tablets (vitamin A) may beprescribed to help lessen the scaling insome severe forms of ichthyosis.

Pregnancy must be avoided during (and fora few months or years after) treatment withretinoids depending on the type of retinoidprescribed.

Sunscreens

Always use a high factor sunscreen product,at least factor 25. Those formulated forchildren and for sensitive skin are moresuited to ‘fragile’ skin. You should always doa patch test first, ask your pharmacist forsamples to try before purchasing asunscreen product. Some brands areavailable on prescription.

• Find an emollient you or your childlikes for washing and regularlymoisturising the skin.

• Apply emollients to damp skin to trapin the moisture – ideally a few minutesafter having a bath or shower.

• Moisturise everyday using long,smooth, soothing strokes (in thedirection of hair growth).

• Take a pot of moisturiser to work,college or school and moisturise dry,scaly skin during the day.

• If scales are very thick, apply youremollient on the affected area in acircular motion to loosen scales. Thickscales can be removed with a pumicestone but it is better to prevent build-up with a regular emollient routine.

• Moisturise scalp and carefully combhair to help remove scales.

• Contact the ISG to talk to otherpeople living with ichthyosis to sharemore hints and tips.

You may find some of thefollowing advice useful:Handy Hints

Ichthyosis You should enjoy life as much as you can and don’t let anything get you down.‘‘

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Types of ichthyosisThere are many types of ichthyosis. All types cause dry, scaly skin butit looks different depending on the type you or your child has.

What treatments are available?At present, there is no cure for ichthyosis, but a daily skincareroutine usually keeps the symptoms manageable.

Nusrit, 32, has Harlequin Ichthyosis

▲ Different examples of ichthyosis. Images courtesy of DermNetNZ.org

A range of treatments may be prescribed. If you pay prescription charges, do purchasea pre-payment prescription certificate, this will make treatment more cost effective.Apply for a Pre-Payment Certificate (NHS) at www.gov.uk/get-a-ppc

▲ X-linked (recessive) ichthyosis. Image courtesy of DermNetNZ.org

▲ Ichthyosis vulgaris. Image courtesy of DermNetNZ.org