A mother’s effort to spread awareness on Ichthyosis

A mother’s effort to spread awareness on Ichthyosis

May is Ichthyosis Awareness Month

 

Dr. Victoria Seb Khing

“…for You formed my inmost parts, You covered me in my mother’s womb…I will praise You for I am fearfully & wonderfully made…my frame was not hidden from You when I was made in secret, & skilfully wrought….Your eyes saw my substance, being yet unformed & in Your book they ALL were written…” ~ Ps 139:13-16

 

I was a mom to a child with ICHTHYOSIS: a term/condition which I wasn’t aware of just like you (in spite of me being a doctor) before my precious daughter was born with it four years ago………. With the month of MAY assigned as ‘Ichthyosis Awareness Month’ the world over, I feel an immense responsibility to let you know what exactly is ICHTHYOSIS so that it will make things easier for those few who have been diagnosed/ underdiagnosed with it in some corner of the State/Country, as well as for you in case you know or come across someone who has been affected with it.

 

Ichthyoses comprises of a group of 30 related rare genetic skin disorders whose primary characteristics include dry, thickened and scaly skin, blisters and peels in certain forms. The milder forms especially Ichthyosis Vulgaris (IL) which is characterised by dry and/or flaky skin often goes undiagnosed/misdiagnosed /overlooked as a dry skin.

 

Ichthyosis is NOT contagious!!!It is caused by a genetic mutation/alteration of genes that make up the skin.

 

Ichthyosis affects people of all ages, races and gender.

 

There is no cure for ichthyosis as of now, treatment consists of managing the symptoms. Most treatment is aimed at keeping the skin moist. In severe cases, medication may be prescribed under constant monitoring.

 

Ichthyosis may be inherited genetically or acquired due to underlying systemic diseases.

 

The inherited type is genetically linked which presents itself at birth or during the first year of life, whereas the acquired type is associated with various underlying systemic diseases and so exhibit in adulthood. Hence in the acquired type, the severity of ichthyosis depends upon the course of the underlying disease and at times regresses once the disease is treated.

 

Acquired ichthyosis has been associated with various systemic diseases such as malignant conditions (Hodgkins lymphoma, leukemia), infections (Leprosy, HIV/AIDS, TB), endocrine (Thyroid disease), metabolic, autoimmune disorders (SLE, Sarcoidosis, type1DM) and drugs (nicotinic acid, triparanol, butyrophenones, dixyrazine, cimetidine, clofazimine).

 

What goes wrong in Ichthyosis:

The skin being the largest sense organ in the body, as we all know, has the important role of keeping the inside-in and the outside-out : barrier function due to which we are being protected from countless infections,injury (from UV light,other stressors) and also regulation of the body fluids. The outermost layer of the skin, the stratum corneum (comprising of many components) plays a mojor part for these protective functions.

 

It is due to the genetic defects in the many components of stratum corneum that contributes to changes in the skin make-up of those with Ichthyosis .To put it simply, in Ichthyosis the body manufactures the stratum corneum too rapidly (upto 300%) or fails to shed in the normal rate or both. This results in a thickened stratum corneum giving rise to a thick, rough and scaly skin. In one form of Ichthyosis, Netherton syndrome, the stratum corneum instead of being too thick is rather too thin.

 

In the severe form of Ichthyosis, Harelequin Ichthyosis the sheet of stratum corneum cells which develop during the baby’s development in the uterus fails to shed naturally. Hence the baby is born with a tight sheath covering the entire body: the shedding is done post delivery and may take months.

 

The extent to which the skin is involved and the differences in outward presentation differ since there is multiplicity of genes involved in Ichthyosis. It ranges from involving the entire body in some while in some the face and body folds are spared.

 

The scales may be dark, coarse in some while it tends to be lighter and finer in others and also pretty fragile leading to blisters in some. Ichthyosis ranges in severity from very scaly to less scaly, red to not red, severe overheating issues to less, or high calorie loss to some loss etc

 

In a newborn infant with Ichthyosis, the skin may look completely normal in some types while in few others it becomes apparent at the time of birth itself. The skin changes becomes completely visible within the first year of life and hence its diagnosis.

 

Making the correct diagnosis can be a challenge even for experts owing to the rarity of the disorder (some as rare as 1:300,000 births). The features of the patient history, family history, monitoring of physical findings often helps in the diagnosis of Ichthyosis. Occasionally a skin biopsy, blood test may be needed. Once the diagnosis is narrowed to a specific form, genetic testing may help in confirming it.

 

Treating Ichthyosis:

The main aim of the treatment is to increase skin comfort to the maximum by reducing the thickness of the skin and by keeping the skin moisturized at all times. It also aims to prevent infections and treat complications which may arise due to trapping of moisture/dirt in between the scales/fissures/cracks in the skin.

 

Therapy may be either topical (apply to skin) or systemic (taken orally) or a combination of both, which is done on a daily basis and is an ongoing process.

~ Keratolytics (SA, AHA, Urea) used with caution especially in infants and children.
~ Emollients (containing petrolatum, lanolin, glycerine & other lipids)
~ Oils (Olive, coconut, Eos)
~ Retinoids: used in severe forms of Ichthyosis under strict medical monitoring

 

** Special Precautions to be looked into:

1. Overheating: Owing to the thickened skin, the skin pores are occluded in most types of Ichthyosis due to which the normal process of sweating to regulate the body temperature is compromised. Hence there can be rapid rise in the body’s core temperature, especially in hot weather, which can prove to be very dangerous, even fatal if left unattended. It is best to avoid overheating by keeping the body hydrated frequently by drinking water,frequent showers, spritzing with bottle of cold water, cool vests, staying in shade/an air-condition room especially in hot, summer days.

 

2. High Calorie loss: Our skin being the largest organ of our body,whatever happens to it has a significant impact on the whole body.Due to this fact, the increased loss of skin from the surface in Ichthyosis (on a daily basis), the body;s entire system is put on enormous strain, hence bringing about a very high nutritional demand. Since the body burns calories so incredibly fast, it becomes hard for children with Ichthyosis to grow and gain weight like a child with normal skin.

 

To put it plain, the rapid skin growth essentially ‘eats up’ most of the calories. The fluid loss through the skin (due to the poor skin barrier) makes the loss of calories even more. Hence there is large demand of protein and Iron to make up for this loss, so also supplementary feedings and nutritional supplements.

 

The extreme demand to make up for daily high calorie loss clubbed together with the dry, tight skin condition, painful excoriations in parts of the body (especially flexures, head, digits, pereneal area) will many a times hinder a child to grow and develop at a normal pace. Hence understandably there may be developmental milestones in some children. Here caution has to be taken to rule out autistic conditions by professionals.

 

3. Ear care: It is important to clean our ears regularly, especially so in a person with Ichthyosis. This is so because the sloughing off of the skin occurs inside the ear canal too just as it does in other parts of the body. The skin shed combines with natural wax and may temporarily impair the hearing.

 

A regular hearing check is advised and so also irrigation/ wax removal by the doctor concerned (every 3,4months). It may be mentioned here that in some types of Ichthyosis like the KID syndrome, Chanarin Dorfman syndrome (Neutral lipid storage disease), Vohwinkel syndrome there is an associated hearing loss (SNHL) involved in which case prompt, early intervention in the form of speech therapy and hearing aids may be sought.

 

4. Exfoliate, exfoliate, exfoliate!: It may be worth mentioning here that dry skin lacks water and not oil. Soaking during baths does a whole lot of good since it makes the skin soft and easier to exfoliate it. The idea here is to know how and how much much to scrub (with hand/wash cloth/loofah/specially designed mitts) which comes with practice. With proper,constant baths,exfoliation,and application of creams/emmolients, the skin becomes more soft,hydrated and hence more comfortable to deal with.

 

 

How we can help:

1. Create awareness:

Taken that Ichthyosis is so rare but that doesn’t mean that it is absent in our community. The very step you take today in learning and creating awareness no matter how insignificant it may seem, will someday help a person in ways unimagined, maybe even save a life. It will also help in doing away with myths (traditional way of healing/going to quacks/’gopiras’), rumours (it is not contagious/curse/not related to anything the mother ate/did during her pregnancy) and also most importantly will help you to understand that the person beneath ‘that’ skin is just like you and me in every way. . A young handsome man (affected with Ichthyosis) whom I met few days back shared how there were times when his class-mates/friends used to mock him to take bath when they noticed the affected areas not knowing that those are not dirt but his skin……Somehow all the pain and hurt are caused because of ignorance which can be done away with if we empower ourselves with knowledge.

 

2. Be real, have heart..!

A child with Ichthyosis becomes aware and conscious of his ‘special’ skin appearance when he starts his school. Kindergarten years are supposed to be smooth since children of that age are most acceptable to things/people without judgement.

 

Once a child enters the junior and teenage years they become aware of the stares and comments passed around which can do a lot of damage to their self-esteem. Bullying happens and is real. As a parent, it would only be wise for us to teach our children how in the sight of God everyone is equal and beautiful and how ‘that’ child with his/her ‘special’ skin is no different from him/her on the inside.

 

In schools, teachers play powerful role models for young children. They can /make the child explain his condition and also show how indifferent he is from the rest. They need to know how to take care of the child in case of overheating and also be sensitive to the fact that the child needs to moisturize often during the course of the school hours to avoid over-drying of the skin.

 

When you meet someone who is ‘different’ on the outside (not exclusively to Ichthyosis), it would do a whole lot of good to the person and you not to make a scene (shouting / exclaiming / gesturing).It makes them conscious of their appearance all the more and may at times even make the person to live in confinement and not socialize at all.

 

For all who live with the challenges or care for some with Ichthyosis, it is an overwhelming condition to keep up with…There is never a time when you can give up, ease up or not maintain a very strict skin regimen….and this optimum goal to maintain this meticulous skin care will continue, maybe for one’s entire life until a cure is found, which I believe will be very soon…