Harlequin Ichthyosis

We do our best to look beautiful and charming but many of us does not provide much attention to skin which is the largest organ of our body and protect us from pollution, sun rays, environmental changes, heat, and cold and from many other things. We can learn to take care of our skin but what if we get a skin disorder? What if our kids get affected by rare genetic disease called Harlequin Ichthyosis? This thought came into my mind and  I started to search information about Harlequin Ichthyosis on web but web is lacking an information so I have decided to build a website that will uncovers the Harlequin Ichthyosis and provide basic as well as advanced information about harlequin Ichthyosis.

Harlequin_BabyWhat is this Harlequin Ichthyosis?

First of all it is better to understand the term ‘Ichthyosis’. Ichthyosis is derived from a Greek word called as ‘Ichthys’. Ichthys means ‘FISH SKIN’ or ‘FISHLIKE SKIN’. Ichthyosis is a combination of two words that is ICHTHYS + OSIS. We learnt that ICHTHYS is nothing but fish like skin while OSIS is a suffix that is being used in medical field to denote the ‘Abnormal increase referring to a pathological condition’. So ICHTHYOSIS can be defined as a medical condition in which skin looks like fish’s skin.

What is mean by harlequin?

Harlequin was a comic entertainer who used to wear dresses with triangular shaped colour patches.  So the term harlequin Ichthyosis derived. Skin of harlequin ichthyosis baby typically looks like fish and become scaly as well as dry. Skin shows triangular scales and fissures between them.

Harlequin Ichthyosis is severe, rare congenital disorder which is caused by mutation of ABCA12 genes which leads to dysfunction of lipid layer of skin and characterised by dry, scaly skin with thickening of keratin layer of skin.

Harlequin ichthyosis belongs to the group f genodermatosis. Mutation of gene’s is nothing but faulty genes.

This disease is also known as ichthyosis congenital & keratosis diffusa fetalis. Sufferers are known as harlequin fetuses, harlequin babies, or plain harlequins

Harlequin Ichthyosis Causes –

HI is caused by Mutation of ABCA12 genes in a baby. HI baby receives one mutation genes from each of her parent who are only carriers of the disorder and does not shows any sign or symptom of HI. If both parent of Harlequin baby is carrier then they will not show any sign of HI because they will have only one copy of faulty gene while baby will receive two copies of faulty genes from each parent and will have TWO faulty genes, so baby will suffer from HI.

Human beings have 46 chromosomes which is made up of 23 pairs.  Out of which 44 are known as autosomes and numbered from 01 to 22 pair. Other two are called as sex chromosomes.  Chromosomes and Genes are located in cell. Each Genes contain specific information known as genetic information; which is helpful to guide cell’s growth, development and health. Different cell have different functions so the genetic information in different cell varies. If this genes become faulty (Mutated ) then these genes send wrong information to cell which is resulted as either deranged function of cell or cell behave abnormally. Genes provides this genetic information and cells build different PROTEINS according the genetic information.

In harlequin ichthyosis ABCA12 genes get affected and provide wrong information to cell. Basic function of ABCA12 genes is to provide genetic information to build ABCA proteins which plays an important role in transporting lipids (fats) in the cell of outermost layer of skin which is also called as EPIDERMIS. When transportation of these Fats in skin cell reduces or stops completely; epidermis of skin develops poorly in new born and skin could not able to perform its basic protective function. Affected skin could not able to prevent fluid loss and infections. Also causes to become scaly, dry, diamond shaped patches of skin divided by deep red painful fissures, sometime it may be more painful than toothache. Mutation of ABCA12 genes also causes another clinical condition called as lamellar ichthyosis which is less severe condition that harlequin ichthyosis.

Sign & Symptoms of harlequin Ichthyosis –

  1. Hyperkeratosis – HI is characterised by large, dry, diamond shaped scales on skin separated by deep fissures.
  2. Ridges (fissures) and cracks in the skin oozing of bloody secretions. It leads to dehydration and infection.
  3. Typical clown like open mouth with circumferential erithematous discoloration.
  4. Skin fissures also cause hypothermia in infants.
  5. Because of affected skin, temperature regulation gets disturbed as well as infant prone to easy water loss from body.
  6. Dry and fissured skin causes itching as well as bleeding.
  7. Poorly developed mouth, eye, and ears are the characteristics of Harlequin Ichthyosis. Microcephaly is another sign. Dry and fissured skin restricts the chest movement causing breathing difficulties.
  8. Ectropion – is another sign of HI. Ectropion is defined as outward turning of lower eyelid.
  9. Eclabium – Outward turning of lips may result in bleeding.
  10. Deformed extremities – Because of extremely dry skin movement of extremities are restricted as well as it shows some deformities.
  11. Harlequin baby become extremely susceptible to temperature changes in environment because of their cracked skin.
  12. Central Nervous System – Metabolic abnormality may cause the seizures as well as function of nerves may get interrupted.

Does harlequin Ichthyosis is a fatal disease?

Till the 2011 HI was termed as fatal and devastating disease. But in Dr. Shefali Rajpopat with other physicians conducted a study of 45 harlequin ichthyosis cases and documented as ‘Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoid, the number of survivors is increasing. Compound heterozygote’s appear to have a survival advantage.’  There are many examples of Harlequin babies that has been survived through this devastating disease with the help of right treatment, good nursing care and lot of love from parents.

Babies with harlequin ichthyosis are not aliens do not ever treat them like an alien. Consult the paediatrics as early as possible and do the best possible efforts to make babies life more easy and beautiful. Harlequin babies do look strange but they are not aliens. What they required is proper treatment and better health care.

How is harlequin ichthyosis detected?

When it comes to genetic diseases in the new born, medical field uses two terms called as ‘Prenatal’ and ‘Postnatal’ diagnosis. Many genetic diseases can be diagnosed before the birth of baby but diagnosing the harlequin before delivery of baby is one of the difficult part. But if any parents who suspects that they are carrier of harlequin can consult the doctor and seek proper advice. There are few documented evidence that harlequin can be detected (or seen) in prenatal ultrasound conditions. It can be done by two ways –

How is Harlequin ichthyosis treated?

Treatment of harlequin ichthyosis in new born must be carried out in neonatal ICU as the child is prone to rapid dehydration, hypothermia and easy infections because of cracked skin as well as most of the harlequin babies are premature.

Treating harlequin babies in early stage of their life is most important factor but cracks in their skin makes it more difficult as it seems impossible to get an IV line as well as to place electrode over their skin. The main part of treatment is to save the child from rapid dehydration, hypothermia, difficult breathing, electrolyte imbalance, infections and to provide effective medicines that will help them in long run of life. Recently Retenoids (etretinate) are being used for treatment of harlequin ichthyosis which tremendously increased the life of harlequin babies. ‘Best Nursing Care’ is one of the most important factors that cannot be ignored during early life of harlequin baby.

Neonatal ICU will look for the following things –

  • Airway maintenance – This is the most important factor in treatment of harlequin ichthyosis. Proper airway maintenance is #1 priority. It is important to look if baby is comfortable while breathing or not. Many times scaly and dry skin makes it impossible for newborn to breath.
  • Protection of conjunctiva – As skin is dry so the conjunctiva is. Most of the time eyes of harlequin baby are pulled outward and causes dryness. To avoid this proper use of ophthalmic lubricant are necessary.
  • Skin Protection –  HI causes dry and scaly skin and it is important to bath the baby with wet sodium chloride compresses to increase skin hydration. Minimum two bath session required everyday to exfoliating the skin. In the view to soften the dry skin bland lubricant must be applied after bath. Most of the time applying ‘Aquaphor’ emollient is best option as it helps skin to moist. It can be applied every 6 hr in summer and more frequently in winter season.
  • Intravenous access for feeding – Feeding a harlequin baby might become difficult because of swollen mouth. So IV fluids required to avoid electrolyte imbalance as well as combat the nutrition problems. Tube feeding can be considered.

 Image Credit - Wikipedia