About ichthyosis harlequin type

What is ichthyosis harlequin type?

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. Harlequin ichthyosis is inherited as an autosomal recessive trait.

What are the symptoms for ichthyosis harlequin type?

Breathing problems due to t symptom was found in the ichthyosis harlequin type condition

The symptoms of Harlequin ichthyosis change with age and tend to be more severe in infants.

In newborns

Babies with Harlequin ichthyosis are usually born prematurely. That means they may have a higher risk of other complications as well.

The sign people usually first notice is hard, thick scales all over the body, including the face. The skin is pulled tightly, causing the scales to crack and split open.

This hardened skin can cause a number of serious issues, including:

  • eyelids turning inside out
  • eyes not closing
  • lips pulled tight, leaving the mouth open and making nursing difficult
  • ears fused to the head
  • small, swollen hands and feet
  • limited mobility in arms and legs
  • nursing difficulties
  • breathing problems due to tight chest skin
  • infections in deep skin cracks
  • dehydration
  • low body temperature
  • high sodium in the blood, known as hypernatremia

In older children and adults

Children with Harlequin ichthyosis may experience a delay in physical development. But their mental development is usually on track with other children their age.

A child born with Harlequin ichthyosis will likely have red, Scaly skin throughout their life.

They may also have:

  • sparse or thin hair as a result of scales on the scalp
  • unusual facial features due to stretched skin
  • reduced hearing from a buildup of scales in the ears
  • problems with finger movement due to tight skin
  • thick fingernails
  • recurring skin infections
  • overheating due to scales that interfere with sweating

What are the causes for ichthyosis harlequin type?

Variants (also known as 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) and enzymes in the outermost layer of skin (the epidermis). 

Some variants in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other variants 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 before and after birth, resulting in the severe skin abnormalities characteristic of harlequin ichthyosis.

What are the treatments for ichthyosis harlequin type?

With improved neonatal facilities, infants born today have a better chance of living longer, healthier lives.

But early, intensive treatment is vital.

Initial treatment

A newborn with Harlequin ichthyosis requires neonatal intensive care, which may include spending time in a heated incubator with high humidity.

Tube feeding can help prevent malnutrition and dehydration. Special lubrication and protection can help keep eyes healthy.

Other initial treatments might include:

  • applying retinoids to help shed hard, scaly skin
  • applying topical antibiotics to prevent infection
  • covering the skin in bandages to prevent infection
  • placing a tube in the airway to help with breathing
  • using lubricating eye drops or protective devices on the eyes


There’s no cure for Harlequin ichthyosis, so management becomes a crucial part of the equation after initial treatment. And it’s all about the skin.

Skin protects the body from bacteria, viruses, and other harmful elements in the environment. It also helps to regulate body temperature and fluid loss.

That’s why keeping your skin clean, moist, and supple is so important for children and adults with Harlequin ichthyosis. Dry, tight skin can crack and become vulnerable to infection.

For maximized benefit, apply ointments and moisturizers right after a bath or shower, while the skin is still moist.

Look for products containing rich moisturizers, such as:

  • alpha-hydroxy acids (AHAs)
  • ceramides
  • cholesterol
  • lanolin
  • petrolatum

Some people in the ichthyosis community recommend AmLactin, which contains the AHA lactic acid. Others recommend adding a few ounces of glycerin to any lotion to help it keep the skin moist for longer periods of time. You can find pure glycerin in some pharmacies. 

Oral retinoids help with thick skin. You should also protect the skin from sunburn and try to avoid extreme temperatures that can irritate the skin.

If you have a school-aged child, make sure to let the school nurse know about their condition and any treatment they may need throughout the school day.

What are the risk factors for ichthyosis harlequin type?

A higher incidence of harlequin ichthyosis may be encountered in cultures where parental consanguinity is common

Is there a cure/medications for ichthyosis harlequin type?

A genetic disorder called harlequin ichthyosis is transmitted by autosomal recessive genes.

No cure available

  • Your baby will need lifelong care for their condition once they are released from the NICU. They will need extensive daily care to exfoliate dead skin and keep their skin moisturized.
  • After initial therapy, care becomes a critical component of the equation because there is no cure for Harlequin ichthyosis. And the skin is the key.
  • Body defenses against germs, viruses, and other dangerous factors include the skin. It also aids in controlling fluid loss and body temperature.


  • Infants born today have a better chance of living longer, healthier lives thanks to improved neonatal facilities.
  • However, prompt, thorough treatment is essential.
  • Neonatal intensive care, which may entail spending time in a heated incubator with high humidity, is necessary for a newborn with Harlequin ichthyosis.
  • Both dehydration and malnutrition can be avoided with tube feeding. Protection and special lubricant can help keep the eyes healthy.

Eyelids turning inside out,Eyes not closing,Lips pulled tight, leaving the mouth open and making nursing difficult,Ears fused to the head,Small, swollen hands and feet,Limited mobility in arms and legs,Nursing difficulties,Breathing problems due to tight chest skin
The majority of the bodies of newborns with this syndrome are covered in extremely thick, rigid skin,Deep cracks separate the huge, diamond-shaped plates that the skin develops (fissures),These skin flaws restrict arm and leg movement in addition to changing the appearance of the eyelids, nose, mouth, and ears

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