Harlequin Ichthyosis

When it comes to a word 'Harlequin' people tend to laugh; because basically it referred to a comic character named as 'Harlequin' but its not funny anymore when it comes to a very rare genetic disorder called as 'Harlequin Ichthyosis'

Harlequin skin disease a very rare 'Genetic' skin disease found in new born baby. Icthys means a fish and skin of baby born with this disorder seems like fish's skin, dry, scaly and dirty.

WHAT IS THIS 'HARLEQUIN ICHTHYOSIS'?

It is a genetic disorder where baby born with thick, dry skin and skin divide itself in many fissure and diamond shaped plates.All skin is affected in this condition. Many fissures on skin causes 'stress' on body surface which result in painful movement of body even in sever cases babies breathing movement also restricted.

Sever Scaling of skin sometime causes to reduce blood supply to both limb which leads to 'Gangrene'. As skin is big organ of our body any disorder that affect skin can cause much harm.Skin is our protective covering which save us from environment, heat, and many other harmful things.

But in harlequin skin become weak and become susceptible to trauma and dehydration.

• Dry, scaly, fissured skin all over the body causing diamond shaped plates of skin which leads to irritation.
• Large and round mouth. 
• poorly developed ears.
• Sometime characterized by edema all over body.
• Swollen eyes

Herlequin is a very rare disease caused by Mutation of 'ABCA12' genes. It is a  'Genetic disorder' with an incidence 'Once' in 3,00,000 births.

ABCA12 genes plays a vital role in building a proteins which are essentials for developing normal & healthy skin in human body. These proteins transport 'Fats' to outermost layer of our skin, any thing that prevents building these proteins results in skin disorders of various kind!!

Yes there are few tests that can be performed to diagnose this condition early in pregnancy.

• Amniotic fluid can be tested at around 17 week of pregnancy for over production of 'Keratin' and abnormal lipids.
• Foetal skin biopsy can be performed at 20th week of pregnancy.
• USG means ultra sonography can also diagnose the disease.

Most of harlequin babies do not survive for long. Even if they do lots complication they develops. As skin become weak following complication may arise:

1. Harlequin baby are easily prone skin infections.
2. Eye infections.
3. Respiratory failure.
4. As skin become thick which prevents sweat glands & heat loss.
5. Excessive water loss from skin leads to dehydration.

If you are having weak heart please do not try to search images of helequin baby!!......Its really horrible.

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