Harlequin ichthyosis is a genetic disorder that causes skin all over the body to become dry, cracked, and thickly scaly. This skin disorder is rare and severe, so it needs intensive treatment.

Babies born with Harlequin ichthyosis have a different skin condition compared to the baby’s skin in general. The skin of babies with Harlequin ichthyosis is damaged so that the skin’s function in maintaining fluid balance in the body and fighting infection is disrupted.

Photo by Heike Mintel on Unsplash

As a result, this condition often leads to severe dehydration and life-threatening infections in the first few weeks of a baby’s life. Therefore, babies born with Harlequin ichthyosis are usually treated immediately and receive intensive care in the NICU .

Causes of Harlequin Ichthyosis

Harlequin ichthyosis is caused by a genetic mutation in the ABCA12 gene. This gene functions in producing the ABCA12 protein which is essential for the formation of normal skin cells.

Mutations cause the production of this protein to not work or produce abnormal proteins, so the skin all over the body and face becomes thick scaly.

This rare skin disorder is usually inherited from parents to children in an autosomal recessive manner. This means that if both parents have the ABCA12 gene mutation, the child is at risk of developing Harlequin ichthyosis .

However, if only one parent has the ABCA12 gene mutation, then the child only has the potential to be a carrier or carrier of the gene mutation to their offspring in the future.

What are the Signs and Symptoms of Harlequin Ichthyosis ?

Babies with Harlequin ichthyosis will usually be born prematurely . Because babies are born with dry, scaly skin all over their bodies, babies often experience serious complications, such as:

  • Eyelids are folded out
  • The mouth is always open so that it makes breastfeeding difficult
  • Ears tend to close and merge with the head
  • Hands and feet are small and swollen
  • Difficulty breathing
  • Low body temperature
  • High levels of sodium in the blood ( hypernatremia)

With age, children with Harlequin ichthyosis will also experience disorders such as:

  • Delays in motor development and body growth
  • Decreased hearing due to the buildup of scales in the ear
  • Repeated skin infections in the slits
  • Always feeling hot

Physically, a child with Harlequin ichthyosis does appear to have many abnormalities, but this disorder only comes from the skin. Usually, their mental development is not impaired.

Harlequin Ichthyosis Treatment

Until now, there is no cure for Harlequin ichthyosis. Various treatments given by doctors only aim to reduce symptoms and prevent complications.

Babies born with Harlequin ichthyosis are usually treated with intensive care in the NICU. Some of the procedures that doctors perform while the baby is in the NICU are:

  • Insert a feeding tube or nasogastric tube to prevent nutritional and fluid deficiencies
  • Applying antibiotics and covering the skin with a bandage to prevent infection
  • Insert a tube in the airway to help breathe
  • Giving eye drops or other eye protection

With proper care, babies with Harlequin ichthyosis generally have a high chance of survival. In fact, many of them are teenagers and adults.

This of course does not escape the routine treatment provided by doctors and support from people around the sufferer, both family members, caregivers, teachers, and friends.

So, despite suffering from a severe genetic disorder, people with Harlequin ichthyosis can still lead a maximum life with prompt and appropriate treatment.