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Published On: Fri, Mar 22nd, 2013

Malawi baby born with rare genetic skin disorder: What is ‘harlequin ichthyosis’?

A woman from the southeast African nation of Malawi shocked doctors this week when she gave birth to a baby with a genetic skin disorder so rare, it’s reportedly the first ever seen in the country, according to a  Nyasa Times report Thursday.

Malawi baby with harlequin icthyosis Image/Video Screen shot

Malawi baby with harlequin icthyosis
Image/Video Screen shot

23-year-old Jamila Mandula’s baby was born with harlequin ichthyosis, a condition that causes the skin to grow 10-times faster than normal.

According to doctors at  Kamuzu Central Hospital (KCH),  “Harlequin ichthyosis has no known cure and is a painstaking difficult condition to live with.”

According to District Nursing Officer (DNO) for Salima District Hospital, Arthur Champiti, chances of the child’s survival are low considering that there’s no immediate treatment for the condition. Champiti said the baby is prone to infections.

According to Genetics Home Reference:

Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.

The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence.

The oldest known survivor with the life-threatening disease is  Nusrit “Nelly” Shaheen from the UK, who was born in 1984.

Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other mutations lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.

According to the Nyasa Times report, the mom  has accepted what has happened and  started breast feeding the baby.

In an interview Mandula said,  “My last hope is now God. I have nothing to say or no one to rely upon apart from God. He assisted me to conceive and I am sure he will also be in full control of the gift of a child he has given me.”

See a video of the news report

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About the Author

- Writer, Co-Founder and Executive Editor of The Global Dispatch. Robert has been covering news in the areas of health, world news and politics for a variety of online news sources. He is also the Editor-in-Chief of the website, Outbreak News Today and hosts the podcast, Outbreak News Interviews on iTunes, Stitcher and Spotify Robert is politically Independent and a born again Christian Follow @bactiman63

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  1. Dr. Sachin says:

    harlequin ichthyosis is really a devastating condition and till the 2011 there was no any active treatment available. Hospitals uses symptomatic treatment like re-hydration and antibiotics. But Dr. Shefali Rajpopat along with other doctors done an extensive study about harlequin ichthyosis and they found that use of RETENOIDS can help harlequin baby.

  2. Lisa Breuning, Public Relations Coordinator says:

    FIRST is a national non-profit foundation located in the United States. We offer support to families affected by all types of ichthyosis. Infections related to Harlequin ichthyosis can be treated with appropriate medical care. The physicians taking care of the baby can visit our website at http://www.firstskinfoundation.org and submit the case for information to our Medical & Scientific Advisory Board. It MUST BE THE PHYSICIAN that is taking care of the baby. Thank you.

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