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Behind Harlequin Ichthyosis – A Rare Skin Condition (Hannah and Lucy)

harlequin ichthyosis hannah and lucy

What Is Harlequin Ichthyosis?

Harlequin ichthyosis, also known as Harlequin baby syndrome, is a severe and rare genetic condition that causes dry, thickened, scaly skin over almost the whole body at birth.

The skin of babies born with this condition is covered with thick plates that crack. The thick plates distort the shape of the eyelids and ears as well as the mouth and nose, which can make it difficult to eat and breathe, which is why babies born with this condition require immediate intensive care.

The tight skin on the abdomen and chest of a baby with Harlequin ichthyosis can cause eating and breathing difficulties. Infants with this disorder may also have small and swollen hands and feet as well as reduced hearing and movement in the arms and legs.

Do Babies With Harlequin Ichthyosis Survive?

In the past, most babies born with this condition didn’t survive beyond a few days because they had breathing problems and doctors couldn’t control their body temperature. But nowadays, thanks to improved neonatal care and advanced medical treatments, such as the use of oral retinoids, the life expectancy of babies born with Harlequin ichthyosis is extended. With supportive treatment, the life expectancy of those children that survive infancy extends into the teens and 20s.

Although the survival rate for this condition has improved, the mortality rate continues to be high, around 50 percent globally.

Are Babies With Harlequin Ichthyosis In Pain?

Newborns with this condition have painful cracks in their hardened, scaly skin. They require immediate neonatal intensive care to reduce the intensity of pain.

Symptoms of Harlequin Ichthyosis

Infants tend to show more severe symptoms than adults with Harlequin ichthyosis.

The hardened and tight skin can lead to several serious issues, such as:

  • Eyelids and lips turning inside out
  • Nursing difficulties
  • Difficulty closing eyes
  • Misshapen ears (or fused to the head)
  • Skin infections
  • Swollen hands and feet
  • Breathing difficulties
  • Reduced movement in arms and legs
  • Low body temperature
  • Hypernatremia
  • Dehydration 

When it comes to older children and adults with Harlequin Ichthyosis, they usually show the following symptoms:

  • Red, dry, scaly skin
  • Unusual facial features
  • Dry eyes
  • Thin hair
  • Thick fingernails
  • Reduced hearing
  • Persistent skin infections
  • Overheating

Can Harlequin Ichthyosis Be Cured?

Harlequin Ichthyosis is an incurable disease, however, it can be managed with standard therapy.

Babies born with this condition need immediate neonatal intensive care. Depending on the severity of the condition, they may be required to spend some time in an incubator with high humidity. In addition, tube feeding may be required to prevent dehydration and malnutrition. Babies’ eyes can be kept healthy by using lubricating eye drops.

Early treatment of Harlequin ichthyosis might also include:

  • Using topical antibiotics to prevent skin infections
  • Using protection or lubricating eye drops on the eyes
  • Inserting a tube in the airway to improve breathing
  • Putting bandages on the skin to prevent infection
  • Applying retinoids to the skin to help shed dry, thick, scaly skin

Not only can early treatment improve outcomes, but it can also decrease complications like dehydration, bacterial infections, electrolyte imbalances, feeding difficulties, and respiratory distress.

It’s important for both children and adults with this condition to keep their skin clean and moist all the time so as to prevent cracking, which can result in infection. 

People with Harlequin ichthyosis must apply ointments, skin softening emollients, and products that contain moisturizers, such as petrolatum, lanolin, ceramides, and alpha-hydroxy acids, especially after taking a bath, as the skin is still moist and it’ll better absorb the moisturizer or ointment. They also need to make sure they protect their skin from sunburn.

For severe cases, doctors recommend using oral retinoids, such as etretinate, isotretinoin, and acitretin, as these chemical compounds can help speed up the shedding of scaly, thick skin.

In addition, many patients with severe symptoms exfoliate manually by using special gloves.

Who Is The Oldest Living Person With Harlequin Ichthyosis?

The oldest living survivor with Harlequin Ichthyosis is a woman called Nusrit Shaheen, nicknamed Nelly, who was born in 1984 in Coventry, West Midlands, England. 

Doctors thought that there was little likelihood she’d live for more than a couple of hours the day she was born. But, she’s proved them wrong. She now leads a normal and productive life despite her condition.

The Story Of Lucy And Hannah Betts

Lucy Betts is a 33-year-old woman from the UK.  She was born with a rare skin condition called Harlequin Ichthyosis. (1)

Harlequin appears in babies when both parents have the same defective gene. Only one in a million children are born with this disorder.

When Lucy‘s parents were ready to have another child, they thought the chances of having a baby with the same disorder were next to impossible. Their second daughter, Hannah, was born with the same condition. 

The skin renews quicker than normal skin, which eventually traps the child’s body in extra skin. Patients with this condition experience massive fluid loss. Harlequin Ichthyosis reduces the movement of arms and legs and affects facial features.

The main purpose of skin is to keep the liquid in the body –  says Dr. David Atherton, Pediatric Dermatology Consultant. (2)

But the skin in patients suffering from this disorder is dry and flaky, so it has to be moisturized several times a day. 

I always said I’d like to wake up one day and just see what I would be like if I didn’t have it… but it wouldn’t really be me. – said Lucy.

Lucy and Hannah are happy to have each other for support living with Harlequin Ichthyosis.

Every day they have to take a two-hour bath and soak their skin in a cream, which facilitates the rigidness. 

The sisters thought they were the only siblings with this disorder, but one day their doctors proposed introducing them to another set of sisters, Dana and Lara, who are also suffering from the same condition. The two families come from the same geographical area, and doctors said they could be distantly related. 

Doctors are doing massive gene research for further findings, but until a cure is found, doctors are fairly certain that protein fats can be added to the girls’ creams as a supplement to make their skin better. 

Lucy, Hannah, Dana, and Lara hope that they’ll soon experience life without the condition. Even though gene research requires massive funding, the girls are optimistic. Optimism really shines a new light on the quality of their life because, despite their condition, these girls have not given up on their dreams. They live life, and they experience life to the fullest.

Here is a video of the story:


Behind Harlequin Ichthyosis - A Rare Skin Condition (Hannah and Lucy)