Premature baby afflicted with rare, incurable skin disorder

By Thuy Quynh   October 8, 2020 | 10:29 am GMT+7
A child born prematurely in Quang Ninh Province has been diagnosed with a rare genetic skin disorder that results in thick, dry, cracked skin.

The boy was delivered through a C-section last Sunday at 32 weeks at the Quang Ninh Maternity and Children Hospital.

His mother, 27, did not have the routine screening before the birth, doctors said.

While the boy’s vital signs are normal, they diagnosed him with Harlequin-type ichthyosis, a rare and painful disorder characterized by thickened skin almost all over the body.

A baby boy in Quang Ninh Province, prematurely born  on October 4, 2020, is diagnosed with Harlequin-type ichthyosis, a rare genetic skin disorder. Photo by VnExpress/The Thiem.

A baby boy in Quang Ninh Province, prematurely born on October 4, 2020, is diagnosed with Harlequin-type ichthyosis, a rare genetic skin disorder. Photo by VnExpress/The Thiem.

He is now being fed both intravenously and through tubes.

The skin disorder is among the rarest and most severe forms of ichthyosis, with a 1/500,000 occurrence rate, doctor Dang Hong Duyen of neonatal department said.

It causes the hypodermis to be 10 times thicker and the skin growth rate to be seven times faster than normal, she added.

Harlequin-type ichthyosis is autosomal recessive and inherited from parents as carriers. It is caused by a genetic mutation which prevents proper protein synthesis for the development of the skin layer. Diagnosis could be done by genetic tests through amniotomy.

While prognosis for those afflicted by the disorder used to be bad, with newborns unlikely to survive through the first few days after birth, modern medical development allows many to survive.

There is no cure, but constant care could moisturize and protect the skin.

 
 
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