Wednesday, July 18, 2012

What Is Harlequin Ichthyosis?

Harlequin Ichthyosis also known as Harlequin baby syndrome, Harlequin skin disease or Ichthyosis Fetalis which is a severe rare genetic disease. Harlequin ichthyosis affects the skin of the new born and derange the normal protective function of skin which leads to painful, scaly and diamond shaped skin.

To understand the harlequin ichthyosis one should know the basic functions of the skin. Skin is one of the important organ of human body and also the largest organ. It helps human body to protect itself from environmental threats like heat, cold, injuries, infections, trauma etc. In short skin is barrier between environmental threats and our internal organs. Another major function of skin is to maintain body temperature with the help of sweat glands; and to excreat unwanted toxins through sweat.

Causes Of Harlequin Ichthyosis -

Now coming back to harlequin ichthyosis; it is a rare genetic disorder which is caused by 'Mutation of genes of human being known as ABCA12'. It founds in infants and can occur once in every 2 to 3 lacs birth. This disease causes dysfunction of lipid layer of skin which helps skin to protect body and to prevent water loss. Lipid layer prevent body being dry and scaly. When ABCA12 genes get mutated it causes dysfunction of lipid layer of skin which directly leads to become skin more and more dry and scaly.

Symptoms of Harlequin ichthyosis:-

1. Dry, textureless, scaly skin is an important symptom of harlequin ichthyosis. It causes skin to become scaly, and these scales look like diamond shaped. Ichthyosis itself means that 'Like a skin of fish'. Cracks seen in the skin causing pain, itching, bleeding and excessive water loss from body.
2. Poorly developed ears and protruded eyes. Oedema of skin and eyes causes swollen eyes.
3. Skin become weak, scaly and edematous and prone to get secondary infection.
4. Because of unwanted and excessive water loss infant become dehydrated.
5. Delayed physical development, reddened skin with sparse hairs.

Harlequin Ichthyosis is rare and devastating disease and better treatment is being researched. With the advanced medicine, good healthcare and proper nursing harlequin baby can enjoy the life better way! 

References :- 
1. Wikipedia -
2. Genetic Home Reference -
3. Harlequin Information Portal -