Baby with harlequin ichthyosis

She was diagnosed with harlequin ichthyosis and put on a strict treatment plan, to give her the best chance of survival, which entailed being kept in a humidified box and rubbed with Vaseline every hour.

Anna has four hours of baths each day (Collect/PA Real Life)

“After a couple of days, I was allowed to leave Vassar and go to her at the children’s hospital,” said Jennie.

“We weren’t able to touch her, as the risk from infection is very high with harlequin ichthyosis sufferers in the first few days of life, as bacteria can very easily get into the open cuts on the skin.

“We were told just to take it day by day, as the chance of death was very high.”

She continued: “I couldn’t believe what was happening and was still in shock.

“But I just knew that we had to keep our little girl alive.”

Luckily, Anna was incredibly resistant and, as the thick white pieces of skin began to come away, her flesh started to take on a more usual colour, although it remained tight and “leathery”.

Anna learning to walk (Collect/PA Real Life)

After three weeks in hospital she was allowed to go home, with Jennie taking on all her treatment needs.

“It was a big adjustment for all of us and there was a lot of trial and error,” she explained.

“But we pretty quickly worked out how best to keep her healthy and it seemed that there was light at the end of the tunnel and that we would be able to get through it.”

Now, taking two two-hour baths a day, to help prevent her skin from drying out and shedding, Anna is growing up as any other normal girl would, although she has some mobility problems due to the skin being taut and restricting movement, and her skin has a particular pinkish hue.

“There are of course difficulties and we are constantly having to think about how her skin might react in different weathers at different times of the year,” Jennie continued.

“And she can’t just go outside to play in the park, as her skin will dry out very quickly and she isn’t able to sweat or control her body temperature either so it can be tough.”

Andres (left), Anna and James (right) (Collect/PA Real Life)

She continued: “But she is learning to talk now and loves chatting, as well as playing with her older brothers, who are great with her. James, my younger son, was at first a little confused by her condition, but is very loving and protective over her now, singing to her when she cries.”

While it is uncertain how disabling ichthyosis will be for Anna in the future, Jennie’s one hope is that her daughter will always retain her happy disposition.

“There may be challenges ahead for her, but I just hope that she will be able to see past her condition,” said Jennie. “I want for her to always have a positive attitude, because it is what everyone loves about her.”

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WARNING: Article contains graphic images.

A 2-year-old toddler in the U.K. has a rare skin condition that affects just one in 500,000 people.

Michal Winter, of Derby, England, was born with thick “plates” of skin on his body due to a condition called harlequin ichthyosis, or HI. These plates — which can complicate breathing and eating and affect the child’s facial features — eventually crack and split, leaving behind red, raw skin. Often, the skin around the eyes and lips is so tight that the eyelids and lips turn inside out, as was the case for Michal.


“It was a huge shock,” his mother, Anna Ciesielska, 30, said, according to the Daily Mail. “I thought I was going to have a healthy baby. Not even the doctors at first knew what was wrong with him.”

Michal with his mom, Anna. (Caters News Agency)

“I didn’t see him initially when he was born, only a few hours later. When I first saw him I was obviously very upset,” she continued. “I was worried that he would suffer and was in pain. Eventually, one of the doctors broke the news to me about what had happened.”

A genetic skin disorder, HI can put those it affects at “high risk for low body temperature, dehydration, and hypernatremia,” or high levels of sodium in the blood, according to the National Organization for Rare Disorders (NORD).

More specifically, HI affects the skin’s protective barrier between the body and the outside 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,” states the U.S. National Library of Medicine. “Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life.”

Michal Winter shortly after he was born. (Caters News Agency)

The toddler requires constant care. Ciesielska moisturizes his sensitive skin every few hours, often using multiple types of creams, according to the Daily Mail. He also takes a moisturizing bath once a day. He cannot go directly in the sun due to fears he could burn. The mom also said she has to ensure her son’s body temperature doesn’t become unbalanced, meaning she has to pay keen attention to whether room temperature is too hot or cold.

“It’s a big challenge. You have to keep him at the right temperature all the time,” said Ciesielska. “He suffers from pain — especially when his skin gets dry because with every movement his skin will crack. I have to keep him away from direct sunlight because it can burn his skin, he also gets cold very easily.”

Michal Winter was born with harlequin ichthyosis, a rare condition that causes his skin to shed every day and become red, cracked and dry and puts him at severe risk of infections. (Caters News Agency)

She added: “He’s always at risk of infection and getting sick. We have to be very careful all of the time.”

In the times that Ciesielska goes into public with her child, many people stare.

“Their jaws drop. Sometimes a person will see a photo of him online and message me saying he looks like a doll,” she said. “It really upsets me.”

Despite his health ailments, the toddler is a “happy and smiley child,” said Ciesielska.

“He’s overcome so much and despite the challenges he faces he’s such a happy and loving child.”

THESE shocking images show a baby girl with an extremely rare condition which has left her without any skin.

The baby born in Nagpur, Maharashtra is believed to be India’s first known case of Harlequin Ichthyosis – a severe genetic disorder which leaves the entire body encased in armour-like thick white plates, separated by deep cracks.

4 Harlequin Ichthyosis is a severe genetic disorder which leaves the entire body encased in armour-like thick white plates, separated by deep cracksCredit: Barcroft Media

She was born by caesarean section to a 23-year-old woman from the Indian city of Amravati at the Lata Mangeshkar Medical College and Hospital.
Paediatrician Dr Yash Banait said the poor child faces a lifetime of treatment and daily skin moisturising.

4 Dr Yash Banai says there is no cure for the conditionCredit: Barcroft Media 4 The child will have to undergo a lifetime of treatmentsCredit: Barcroft Media

He said: “There is no cure for this disorder. All that medical science can do is try to keep the baby alive.”
Doctors say they’re applying petroleum jelly and coconut oil onto the child’s skin and giving her a special nutritional supplement.

Harlequin Ichthyosis, which affects approximately 1 in 300,000 births, requires intensive care at birth.

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Dr Banait added: “The baby is not finding any difficulty in breathing and is now stable.”

According to the him, a baby with the same condition lived for 24 years after being born in Pakistan in 1984.

Another child with the severe condition was reportedly born in the USA in 1994.

4 She was born by caesarean section to a 23-year-old womanCredit: Barcroft Media

What is Ichthyosis?

According to the NHS website, Ichthyosis is a long-term condition that results in persistently thick, dry, “fish-scale” skin.
There is no cure, but a daily skincare routine usually keeps the symptoms mild and manageable.
Most people with ichthyosis have inherited a particular faulty gene from their parent.
The signs and symptoms of inherited ichthyosis appear at birth or within the first year of life.
This faulty gene affects the rate at which their skin regenerates – either the shedding of old skin cells is too slow, or the skin cells reproduce at a much faster rate than they can shed old skin. Either way, this causes a build-up of rough, scaly skin.
Ichthyosis can also be acquired as an adult, caused by developing certain health conditions.

Doctors always cautioned me against getting pregnant, but all I’ve ever wanted to do was be a mom.

Their fears weren’t completely unfounded: I was born with Harlequin ichthyosis (HI), a rare genetic disorder that causes severe skin abnormalities, and pregnancy is extremely dangerous for me. My thick skin doesn’t stretch at all and often breaks into painful cracks. I can’t regulate my body temperature, which pregnancy hormones make even worse. Plus, pregnancy makes it super easy for me to get an infection, since it suppresses my already-low immune system.

I always knew pregnancy meant huge risks, but those risks were worth it to me. In my heart, I just knew that it would all be okay. So I married to the man of my dreams and, at 20, became the first woman with my condition to give birth.

Life Before Motherhood

I’ve been defying expectations for a long time. When I was born 23 years ago, my mother’s doctors told her that I’d only survive 30 minutes to an hour. Deep cracks in my skin meant I needed to be bandaged head-to-toe to protect against infections, but if the thick skin on my chest couldn’t expand enough, I’d suffocate. My mom was told to start thinking about my funeral. Since I was in the NICU at the time, she just kept asking if I was still alive. Every time doctors replied yes, I was, she said, “Then I’m not planning anything. She’s going to make it.” Mom knew from the beginning that I wasn’t giving up.

It may not sound like it to most people, but I was extremely blessed. With HI, my skin sheds and grows a zillion times faster than the average person, so I lose a lot of calories each day. Many HI-affected babies have to have feeding tubes at night to make sure they keep gaining enough weight, but I didn’t have to.

Stephanie Turner as a baby. Courtesy of Stephanie Turner

To avoid skin infections growing up, my mom had to wrap me in gauze and apply Aquaphor lotion all over my body, sometimes multiple times a day. My skin sheds even inside my ears and nose, which made it hard to hear and sometimes itched a ton, so my mom used tweezers to remove the excess skin.

At the time, there was very little information available about HI, but my mom learned everything she could so that I could learn to take care of myself. Most of the time, it was she and I working through it together, so we’ve always been pretty good buddies.

I went to public school in the same small Arkansas town where I was born and still live today. My mom and dad were born here too. Everybody knows everybody here. Still, sometimes people would see my red skin and ask if I’d been sunburned, or if I was in a fire. The worst was when people would point at me or whisper to their friends.

My mom was always sure to handle that sort of stuff quickly. When I was five, for example, my mom, my grandmother and I were at Dillard’s. An employee started making a scene about my skin — you could hear it across the entire store. She said things like, “What happened?” and “Oh, I thought you had makeup on!” My mom sent me away with my grandmother, and the woman ended up getting fired. Mom taught me how to stand up for myself that day. Now, everyone in town knows who I am: tough.

I joined the cheerleading squad in high school, and that was the first time I felt like I was different. All the other cheerleaders would do their hair and makeup together before football or basketball games, but I don’t wear makeup, and I’ve worn a wig since the first grade. It was hard to feel like I fit in.

Stephanie Turner, age 5, and her mother. Courtesy of Stephanie Turner

I dated a couple boys, some more serious than others, but at 18, I met Curtis. I’d never, ever messaged anyone on Facebook first, but he and I had mutual friends, so when I thought he was cute, I sent him a message on impulse and we hit it off from there. He lived an hour away, so we messaged back and forth and then started talking on the phone.

He never once asked about my skin, so finally, one day I said, “Are you wondering why I’m red? Is that not a concern for you?” And he said no, not at all. I explained everything anyway, and he didn’t think it was a big deal. It’s still not really a big deal to him.

Curt proposed in February 2011. Our romance was a whirlwind, and I knew right away that he was my forever. Our plan was to get married on September 21.

In April, we were driving home after a doctor’s appointment and he said, “I’d marry you right now.” I challenged him, “No, you wouldn’t.” And when he said again, “Yes, I would,” I suggested we go right then and there. We called the courthouse and got married that day. Later, my family was heartbroken. I do wish I’d let my mom know; we even had the dress. But I don’t regret it. Our ceremony was sweet, intimate and just how I wanted it.

Stephanie and Curtis Turner in 2016. Courtesy of Stephanie Turner

Building a Family

Curtis and I knew we wanted to have kids and started trying to get pregnant right away. We found out on September 21 — the day we’d originally planned to get married — that we were expecting a baby.

Megan Tatem

When I went to the doctor, I was shocked to hear them say that abortion was my best option. I told them it wasn’t going to happen. Every time I spoke to my doctor before it was too far along to terminate the pregnancy, he’d mention it. His reasoning was that in addition to the dangers to my health, there was a 50/50 chance that my baby could have my condition or another form of ichthyosis. What if I was putting myself through all this pain and then the baby died? I said, “Who better to take care of my baby than someone who knows what it’s like to go through this?”

Our doctors then suggested rounds of invasive testing, but we refused those as well. I believed whatever God had planned was going to happen. My faith is what kept me right that whole time. Our family could handle it whether my baby had Harlequin ichthyosis or not.

My pregnancy turned out to be flawless. I used more Aquaphor for my skin during pregnancy because I was so fat, but I didn’t have to do anything else special at all. My body just knew what was happening and rolled with it.

Delivery, however, ended up being horrible. I was in labor for three days, and then the epidural wouldn’t work on one side. My cervix wasn’t cooperating either. Finally, when the baby’s heart rate dropped, they had to do an emergency C-section and I was put under anesthesia. When a vein got cut, the cauterizer didn’t work very well and I was bleeding heavily before they got it to stop.

When Willie finally came out, I didn’t see him for a good three or four hours afterward. My family had been able to see him so they were showing me pictures on their phones and eventually I was like, What the crap! Where’s my baby? When I finally saw him, he was so perfect, like a Precious Moments baby. It made all the pain and worry worthwhile.

Stephanie Turner will Willie (right) after giving birth to Olivia (center) in November 2014. Courtesy of Stephanie Turner

Eight months later, I got pregnant again. It was a surprise, but we were thrilled. I had another easy pregnancy, but I was more nervous than the first time. Part of it was knowing what taking care of a baby was really like. Taking care of two babies was going to be tough as a mom who already had HI — and if this baby also had HI, I knew it would be a lot of extra stress.

This time, I had a scheduled C-section. The epidural worked, they got me in and got Olivia out. She came out screaming like a normal, healthy baby. I even got to do skin-to-skin, her pale skin on my red.

The saddest part of both pregnancies was that I’d wanted to breastfeed so badly. Breastfeeding would require a crazy amount of extra calories — on top of what I already lose in a day — but I wanted to try. Ultimately, I was just too scared and couldn’t do it.

Our Happy Foursome

Since becoming a mom, my skincare regimen has … evolved. When I wake up, my skin is super dry and tight, so I have to take a bath every morning. Before my kids, I would soak for a long time. I’d check Facebook, relax — it was like a vacation. Now that I have kids, though, I get them breakfast first and then take a quick bath. But my two-year-old daughter is playing with my toothbrush in the bathwater and my three-year-old son is throwing towels. It’s definitely not a vacation anymore! My life is way more about taking care of them than of myself, which is how I wanted it to be.

They’re maniac toddlers right now, but my kids are also great helpers. I can’t open my hands completely and they’re not very strong because the skin isn’t stretched out all the way. When I can’t open things, I ask Willie to pitch in.

All along, Curtis has been my rock. He’s an amazing father, and now he’s my protector. When anybody stares at me at the mall or makes comments, I have to be like, “No, Curtis, it’s okay. I can handle it.” He’s always on my side, he’ll help me in any way possible, and he never, ever makes me feel less than beautiful. Anywhere he goes, he wants to make sure I go with him. Even when I’m in sweatpants, he’ll say, “Come with me, baby. It’s okay, you look beautiful.” He’ll argue with me when I say I don’t.

On his way home from work, Curt often stops on the side of the road to pick my favorite wildflowers. I don’t care about store-bought flowers, but I love those. When it gets hot outside or the weather changes drastically, I can’t sweat, so my skin hurts and I overheat. Curtis will help me put on lotion or cool me down. He’s just super-duper sweet all around, there’s no way I can name all the sweet things he does.

Megan Tatem

My mother has been the biggest influence on the kind of mother I am. When my kids are sick, I’m like, Okay, don’t panic — because she taught me to be tough. The biggest lesson I want to hand down from her: You can do anything. Don’t care about what other people think, as long as you’re happy.

I also want my children to be open to people’s differences. Going new places can be a challenge for me. We went to St. Louis not too long ago, and I got so many stares and dumb questions. “Were you in a fire?” is a legitimately stupid question. No, I was not in a fire — I’m wearing a bra and jeans and if I was that sunburned or injured, I wouldn’t be in regular clothes. But I’d much rather everyone ask questions instead of just staring and making assumptions.

Most parents don’t know to teach their kids about HI. They might teach them about people in wheelchairs, but they don’t know about “the red girl” walking around. Even my kids, who have a red mom, still get nervous when they see people with disabilities because they just don’t know. So I try to teach my kids about all kinds of people. And I talk to other children and smile and compliment their shirt or something to let them know I’m a nice person. I had one kid at Walmart call me Elmo, but that was probably the cutest thing that ever happened to me, so I was almost proud of it.

My life has been a lot smoother than that of a lot of people who have Harlequin ichthyosis. I want kids with HI to know that it always gets better. Eventually you grow up, and you think, To heck with them. Or you can try to educate people and if they don’t want to be educated, you don’t need them in your life. No matter what you do, people are going to judge you. You just gotta keep rolling.

Stephanie, Willie, Olivia and Curtis Turner with Santa Claus in 2016. Courtesy of Stephanie Turner

Update, March 21, 2017: We are very heartbroken to share that Stephanie Marie Turner died on March 3, 2017. She was 23. “Stephanie’s passing has been devastating for our family,” her husband, Curtis, wrote on GoFundMe. “Our children Willie, 3 years old, and Olivia, two years old, are truly our little miracles… She leaves behind two blessings from God and has entrusted me to raise these two children of ours to be the kindest, selfless, giving man and woman they can grow into. Stephanie, my heart aches for you, our time was cut short. You have forever changed my life as well as all the people whom you have ever known. You may be gone but never forgotten, and loved always like no other. Thank you from the bottom of my heart for choosing me to spend your life with.”

Asher Fogle Writer When she’s not hunting for compelling personal stories or justifying her love for dessert, Asher can likely be found watching early-2000s TV on Netflix with her husband.

Mrs. Stephanie Marie (Moore) Turner resident of Wynne, Arkansas departed this life at her home on Friday, March 3, 2017 at the age of 23. She was born in Memphis, Tennessee on Friday, March 19, 1993 the daughter of Steve Moore and Donna Palmer.
Stephanie and Curtis Turner were united in marriage April 11, 2012. She was a homemaker and attended Vanndale Baptist Church and Three Trees Cowboy Church regularly. Stephanie was a member of FIRST (Foundation for Ichthyosis & Related Skin Types) as she was ailed with Harlequin Ichthyosis for the entirety of her life. She had a passion for food and riding back roads with her friends. She loved to play and dance in the rain and spend time with her children. Stephanie loved life and all of the people in her life. She was loved dearly, and will be missed by many.
Stephanie was preceded in death by her maternal grandfather, Donald Burton.
She is survived by her loving husband of four years, Curtis Turner of the home; one son, William Turner of the home; one daughter, Olivia Turner of the home; her parents, Steve Moore and Donna Palmer; one brother, Brett Palmer and wife Natalie of Jonesboro; one sister, Hailey Palmer of Wynne; paternal grandparents, James and Ethel Moore; maternal grandparents, Bryan and Barbara Bradley; maternal great-grandmother, Dorothy Searcy; and a host of other relatives and friends.
Friends may visit at the funeral home from 5:00 to 7:00 p.m. on Wednesday, March 8, 2017. Funeral services will be held at 2:00 p.m. on Thursday, March 9, 2017 in the Thompson-Wilson Funeral Home chapel in Wynne with Brother Author Barber and Brother Justin Winkles officiating. Interment will follow in Vanndale Cemetery in Vanndale.
Those honored to serve as pallbearers are Tyler Pulley, Jacob Harris, Harlan Melton, Brett Palmer, Blake Veasley, Tyler Burton, Michael Turner, Cody Burton, and Cheyenne Palmer.

Harlequin Ichthyosis – A Case Report 

Harlequin Ichthyosis is a very rare genetic skin disorder with severe morbidity and mortality. At birth the infant is born with a thick “coat of armour” that severely restricts movement. Autosomal recessive inheritance pattern has been inferred. Mutations in ABCA12 gene, a protein which plays a major role in the transport of lipids in the outermost layer of skin have been identified in a high percentage of Harlequin Ichthyosis children chromosomes1,3 . Historically the Harlequin Ichthyosis affected infant would die within two days of life because of feeding problems, bacterial infection and/or respiratory distress. However more recently a number of patients have survived because of developments in neonatal intensive care and the benefits of systemic retinoids. Successful management requires a multidisciplinary approach from the onset.

Case Report:
We report a case of 37-year-old para 2+0 who booked at 18 weeks gestation with EDD based on early scan of 14/11/15. She had two spontaneous normal vaginal delivery at full term and had no significant past medical or surgical history. Her serology results were negative. She had uneventful antenatal visits until at 34 weeks gestation when she presented with decreased fetal movement and pelvic girdle pain. On assessment CTG was reactive, umbilical artery doppler was normal and amniotic fluid index was 23cm. The baby was presenting as breech with an EFW on the 64th centile. She was reassured and discharged home with physiotherapy referral for her PGP. She was readmitted 10 days later at 35 weeks+ 6 days with PPROM, contracting three in 10 mins. On Vaginal examination cervix was 3 cm dilated. TAUSS confirmed oblique lie and hence decision made for category 2 Caesarean section following consultant review. At LSCS, female infant was delivered breech. The skin was very hard and thick with generalised deep fissures affecting the face, trunks, upper and lower limbs. Her birth weight was 3.14kg with APGAR 9 in one min and 10 in 5 mins. Placental swabs was taken and placenta sent for histology.

Baby was diagnosed with Harlequin Ichthyosis, and transferred to a tertiary centre for expert management. She unfortunately died after 11 days of supportive management. Placental swabs showed no growth and histology detected no abnormality.

Reverend Oliver Hart became the first to document the condition Harlequin Ichthyosis in 1750. The disorder’s name alludes to the character Harlequin in the Italian Commedia dell’arte, which made its debut in the 1580’s2. Harlequin Ichthyosis is an inherited autosomal recessive disorder that is characterized by congenital epidermis abnormality. Mutations in the ABCA12 gene have been reported in the majority of Harlequin ichthyosis patients. The ABCA12 gene is believed to encode a transporter protein involved in the transport of epidermal lipids across cell membranes. Identification of this gene has made DNA-based prenatal diagnosis of Harlequin Ichthyosis possible. In order to express the disorder, individuals must inherit two recessive genes, one from each parent, although the parents (the “carriers”) show no signs1,2,3. In the past, harlequin infants rarely survived the first few days of life. However, with recent advances in neonatal care especially with intense supportive care and administration of systemic retinoid therapy during the early neonatal periods, harlequin infants can survive. Just last year, 20-year-old Stephanie Turner who was born with the disorder gave birth to a perfectly healthy male infant.

The basic principles of management includes; meticulous skin care, hourly emollient, two hourly eye lubrication, monitoring for digital ischaemia secondary to constricted skin , nurse out of incubator in heated environment , fluid replacement, NG feeding. The crucial point is to start systemic retinoid eg Acitretin as soon as possible. Starting the retinoid before day three appears to improve survival as much as 80% (0.5-1mg/kg/day).(1,2,3)

Conflict of interest:
None declared

Dr Chukwudi Ugezu, Department of Obstetrics and Gynaecology, Wexford General Hospital, Newtown Road. Wexford
Email: [email protected]

1.Akiyama M, Sakai. K ,Sugiyama-Nakagiri Y, Yamanaka Y, McMillian JR, Sawamura D, Niizeki H, Miyagawa S, Shimizu H. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. J Invest. Dermatol.2006 Jul;126(7):1518-23Epub 2006 May 4.

2. Hovnanian A. Harlequin ichthyosis unmasked: a defect of lipid transport. J Clin Invest.2005 Jul:115(7):1708-10. Review


Harlequin ichthyosis

What is harlequin ichthyosis?

Harlequin ichthyosis is a rare and severe form of ichthyosis that results in hard, thickened armour-like plates of skin covering the entire body from birth. Harlequin ichthyosis is also called harlequin-type ichthyosis, and harlequin fetus .

Note that harlequin syndrome refers to a different condition characterised by asymmetrical, progressive, and segmental sweat loss (also known as progressive isolated segmental anhidrosis), and to unilateral sweating and flushing on the chest, neck, and face.

Harlequin change describes rapidly fluctuating unilateral erythema in neonates.

Harlequin fetus

Who gets harlequin ichthyosis?

Harlequin ichthyosis is rare, and both sexes are affected in equal numbers. It affects approximately one in 300,000 newborns .

There is no racial predilection known for harlequin ichthyosis. Higher incidence may be encountered in cultures where parental consanguinity is common .

What causes harlequin ichthyosis?

The inheritance of harlequin ichthyosis is autosomal recessive. It is due to mutations in the ABCA 12 (ATP-binding cassette sub-family A member 12) gene. The ABCA12 gene is believed to encode a transporter protein involved in the transport of epidermal lipids across cell membranes and is essential for normal skin development.

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 .

What are the clinical features of harlequin ichthyosis?

The clinical features of harlequin ichthyosis are described below.

Cutaneous features

  • Skin changes are present at birth.
  • The patient’s skin is severely thickened with large, shiny plates of hyperkeratotic scale.
  • Deep erythematous fissures separate the scales.


  • Severe ectropion affecting the patient’s eyelids leaves the conjunctivae and cornea at risk of desiccation, infection, and trauma.
  • The nose may be poorly developed, with the patient exhibiting nasal hypoplasia, eroded nasal alae, and obstructed nares.
  • The ears may be poorly developed, flattened, or absent.
  • The retroauricular folds and the pinnae of the ears may be small or absent, and the external auditory canal may be obstructed by scale.
  • The traction of the lips causes eclabium.


  • The patient’s limbs are encased in thick, hyperkeratotic skin.
  • Hypoplasia and extra fingers and toes may occur.

Thermal dysregulation

  • The patient’s thickened skin prevents normal sweat gland function and heat loss.
  • Excessive fluid loss leads to dehydration.
  • The rise in body temperature can cause heatstroke.

What are the complications of harlequin ichthyosis?

  • The cutaneous abnormalities associated with harlequin ichthyosis disrupt the normal skin barrier.
  • The patient’s poor immunity to infections may be life-threatening.
  • Thick, hyperkeratotic skin may cause contractures (muscle shortening) and constriction of the limbs (including the fingers and toes) leading to swelling, necrosis, and autoamputation.
  • The patient’s respiration is also restricted. The rigid skin impedes chest wall expansion, leading to hypoventilation and respiratory failure.

How is harlequin ichthyosis diagnosed?

The diagnosis of harlequin ichthyosis relies on a physical examination of the patient and genetic laboratory investigations.

Genetic testing for a loss of function mutation in the ABCA12 gene is the most specific diagnostic test for harlequin ichthyosis.

  • Mutations in the gene may cause impaired transport of lipids in the skin and shrunken versions of proteins responsible for skin development.
  • Less severe mutations result in a collodion membrane and congenital ichthyosiform erythroderma-like presentation .

Biopsy of skin may reveal hyperkeratotic skin cells on histology.

What is the differential diagnosis for harlequin ichthyosis?

The differential diagnosis for harlequin ichthyosis includes the other forms of inherited ichthyosis; these being:

  • Ichthyosis vulgaris (95% of cases of ichthyosis), caused by a mutation of the gene encoding the protein filaggrin (the FLG gene)
  • Recessive X-linked ichthyosis, caused by a mutation of the enzyme steroid sulfatase (STS)
  • Autosomal recessive congenital ichthyoses, lamellar, congenital ichthyosiform erythroderma, and Netherton syndrome
  • Keratinopathic ichthyoses (caused by a mutation of a keratin gene).

Sjögren-Larsson syndrome

  • Sjögren–Larsson syndrome is caused by an inborn error of metabolism, resulting in the deficiency of an enzyme, fatty aldehyde dehydrogenase (FALDH), which is needed to produce normal oils and fats in the body.
  • Its clinical features include ichthyosis, cerebral palsy, and intellectual impairment.

Gaucher disease

Gaucher disease is an autosomal recessive inborn error in glucosylceramidase, which may present as a collodion baby with developmental and neurological problems.


Trichothiodystrophy is characterised by photosensitivity, ichthyosis, brittle hair, developmental delay, and/or short stature.

X-linked chondrodysplasia punctata (Conradi–Hünermann–Happle syndrome)

  • X-linked chondrodysplasia punctata is caused by a defect in cholesterol biosynthesis due to a mutation in the gene coding for emopamil-binding protein (EBP).
  • X-linked chondrodysplasia leads to early gestational lethality in males.
  • X-linked chondrodysplasia leads to cicatricial scarring, alopecia, patchy/diffuse ichthyosis that may resolve into atrophoderma and hyperpigmentation, punctate calcification in epiphyseal cartilage (the cartilage plate at the end of long bones), asymmetrical rhizomelic (proximal) limb shortening, cataracts, and deafness in females.

What is the treatment for harlequin ichthyosis?

There is no cure for harlequin ichthyosis, and treatment is centred around protecting the skin and preventing infection.

After birth, the thick plate-like outer layer of skin eventually splits and peels, leaving the vulnerable inner layers of the dermis exposed. Most harlequin infants will need one-on-one nursing care for the first several weeks of life. Antibiotic treatment may also be necessary to prevent or treat infection during this time.

Softening emollients, especially those containing urea, salicylic acid or alpha hydroxy acids, are particularly effective when applied after bathing while the skin is still moist. These products work to keep the skin moisturised and pliable while preventing the cracking and fissuring that can lead to secondary bacterial infection.

Early systemic treatment with oral retinoids (eg, acitretin or isotretinoin) has also been shown to heal skin fissures, soften or resolve plate-like scales, and improve overall survival .

What is the outcome for harlequin ichthyosis?

In the past, harlequin ichthyosis infants rarely survived beyond the first few days of life. With advancements in neonatal care, the survival rate has improved, with worldwide figures approaching 50% .

Children who survive the neonatal period usually evolve to a less severe phenotype of ichthyosis but continue to develop fish-like scales, and have retention of waxy, yellowing material in seborrhoeic areas, generalised poor hair growth and scarring alopecia. Harlequin ichthyosis survivors may continue to suffer from temperature dysregulation, have contractures of the digits, arthralgias, failure to thrive, hypothyroidism, and short stature.

Cause, symptoms and cure: What is the Harlequin disorder?

India’s first recorded case of a baby born with Harlequin Ichthyosis – a rare genetic disorder – died on Monday morning after it developed breathing problems at a private hospital in Nagpur.

The baby was born to a 23-year-old woman from Amravati in Vidarbha region of Maharashtra on Saturday.

Here are answers to some questions regarding the most severe and devastating skin disorder.

Read | Harlequin baby dies two days after birth

Harlequin fetus. (Wikimedia commons)

What is it?

Harlequin Ichthyosis is a rare genetic skin disorder. Infants who are affected by this condition are born with thick, yellow and very hard skin. The skin has large, diamond shaped plates separated by deep fissures. The disorder affects shapes of all the organs.

How rare?

The disease is very rare and the exact incidence is unknown. However, according to a 2014 paper written by Ahmed H and O’Toole EA, two researchers from Department of Dermatology, Barts Health National Health Service Trust, one in 3,00,000 babies get this disease.

What causes it?

Mutations in the ABCA12 gene cause the disease. The ABCA12 protein plays a major role in transporting fats in cells that make up the outermost layer of skin. Severe mutations in the gene lead to absence or partial production of the ABCA12 protein. This results in lack of lipid transport and as a result the skin development is affected by varying degrees according to the severity of the mutation.

How is it inherited?

For a baby to inherit this condition, both father and mother, should be carriers of the mutated ABCA12 gene. This type of inheritance is called autosomal recessive pattern.

Can it be cured?

There is no cure for the disorder but it can be managed with treatment. In the past the disease was considered fatal. But with advanced technology improved survival rate has been achieved with intense neonatal care.

First known case

A researcher called J I Waring in a paper titled “early mention of a harlequin fetus in America”, quotes a diary entry from Oliver Hart, a pastor of a Baptist church in Charleston. This is allegedly the first recorded case of the disorder

“On Thursday, April ye 5th, 1750, I went to see a most deplorable object of a child, born the night before, of one Mary Evans, in Chas: town. It was surprising to all who beheld it, and I scarcely know how to describe it. The skin was dry and hard, and seemed to be cracked in many places, somewhat resembling the Scales of a Fish. The Mouth was large and round, and wide open. It had no external nose, but two Holes where the Nose would have been. The Eyes appeared to be lumps of coagulated blood, turned out, about the Bigness of a Plumb, ghastly to behold. It had no external ears, but holes where the ears should be.”

People who survived the disorder

The Daily Mail profiled 24-year-old Stephanie Turner who was affected by Harlequin ichthyosis and is now living in the US with her two-year-old son – first person with the condition to have a baby.

Here is another profile about a 21-year-old woman Hunter Steinitz who inherited the disease.

Another profile of Nusrit Shaheen, 32-year-old woman, living in the UK.

Source: National Library of Medicine,

Woman with rare ‘harlequin’ condition causing super thick skin is the first sufferer to give birth

A woman with a rare debilitating skin condition is the first Harlequin ichthyosis sufferer to become a mother.

Stephanie Turner was born with the genetic condition, which causes her skin to be abnormally thick and severely cracked.

The 23-year-old cannot grow much hair, her ears and eyelids are receding and the disorder has caused problems with her hands and feet.

She is also highly susceptible to germs that would normally be blocked by the skin’s outer barrier.

But despite these trials Stephanie has beaten the odds to become the first sufferer to give birth to a child.

Pregnant: Stephanie whilst pregnant with first child Willy on March 2015 in Wynne, Arkansas (Image: Barcroft)

Stephanie, from Wynne, Arkansas, in America, is currently the oldest female with the condition in the US and has had to endure decades of hurtful comments about her unusual looks.

“I’ve actually had someone come up to me and ask if I was in a fire,” Stephanie said.

“If it gets too hot I had to stay in, I’d get sick, pus would come up, my skin would hurt and it would be awful.”

Condition: Harlequin sufferer Stephanie Turner examines her thick, cracked skin in a mirror (Image: Barcroft)

When Stephanie was born her mother Donna was told her daughter was unlikely to survive the first few days.

“They told me babies who are born with this skin condition had no hope,” Donna said.

Survivor: Stephanie as a baby in Wynne (Image: Barcroft)

Stephanie’s survival is partly thanks to a cream, which keeps the bacteria out and lubricates her tough skin and restricted limbs.

“I always spend about 15-minutes putting lotion on because my skin is so tight and doesn’t have any give,” she said.

“The skin is the only thing I’ve ever known, it’s just born like this so I don’t know how to look at myself any different.”

Happy: Stephanie Turner with daughter Olivia (Image: Barcroft)

And Stephanie’s positive attitude in the face of constant pain and discomfort is what attracted her now-husband Curtis.

The couple met and married months later in a whirlwind romance.

Family: Stephanie Turner with husband Curtis and children Willy, two, and Olivia, four-months (Image: Barcroft)

Curtis said: “When I met her I didn’t see a person with a skin disorder, I just saw a beautiful woman.

“She was funny and she’s always trying to make things positive.”

Soon after the wedding Stephanie became pregnant.

“I always wanted to be a mum but I didn’t know if I could have kids,” she said.

Medical: Stephanie’s condition is examined (Image: Barcroft)

Stephanie knew she was risking her life by deciding to have a baby.

Pregnancy in a woman with Harlequin syndrome was unprecedented.

The big fear was whether the skin on Stephanie’s stomach would stretch, as she grew bigger during pregnancy.

“The doctors couldn’t tell us anything because I was the first one to consider having a baby,” Stephanie said.

Younger: Stephanie at 20-years-old (Image: Barcroft)

But against all expectations pregnancy was beneficial for Stephanie’s rare skin condition and she gave birth to a healthy baby boy.

Now the couple are parents to two children Willy, aged two, and Olivia, aged four-months.

Both parents must have genetic defect for Harlequin to be passed on to children and as Curtis doesn’t have the defect both Stephanie’s babies escaped their mother’s painful condition.

Education: Stephanie at graduation (Image: Barcroft)

“I can’t tell you what good of a feeling it is just to have your children healthy and happy,” she said.

“I hope the future holds nothing but happiness. I’m sure there will be a few bumps along the road, but that’s life.

“We’re just focusing on my two perfect babies and my wonderful husband.”

Couple: Stephanie Turner with husband Curtis (Image: Barcroft)

Curtis said: “Stephanie is a super-mum, she can be doing 50-different things at once and still have time to smile and take care of both the kids.”

Stephanie’s story features in a new series of Body Bizarre on Thursday September 3, 9pm, on TLC.

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A video of a baby with hard, cracked skin has been widely shared by social media users. “Rakshas born in asam Baby born after 11 months of pregnancy Killed mother during birth The nurse who took care of it died within 3 hours of touching”, reads the claim sent to Alt News’s official app. It is being claimed that a devil child born in Assam took the life of the mother who gave him birth. The nurse who took care of the child also died in three hours of touching the child, the message further adds.

A few more people on WhatsApp inquired about the video.

Fact- check

A reverse image search on Google of one of the keyframes extracted from the video using InVid, a digital verification tool, led Alt News to a YouTube video uploaded on July 21, 2019.

Rare disease

The child is suffering from a rare disease, which can affect any ethnic group, called Harlequin Ichthyosis. According to a 2019 BBC report, the condition, which is a result of a faulty gene is said to affect one in a million. “It affects the rate at which the skin regenerates, meaning that old dry skin cells either take longer to shed, or new cells are reproduced too quickly, causing a build-up of thick skin. Large scaly plates then form, separated by deep cracks, which is where it gets the name.” The symptoms usually appear at birth or within the first year of birth.

While social media posts are referring to the child as a ‘demon’, the baby is actually suffering from a medical condition called Harlequin Ichthyosis.

Cases reported in India

A farmer couple in Vidarbha of Maharastra gave birth to a Harlequin baby in June 2016. Hindustan Times dubbed this as India’s first reported case of a baby born with Harlequin Ichthyosis. The child reportedly died after struggling for life for two days.

One more case of a baby with Harlequin Ichthyosis was reported in January 2017 in Bihar’s Patna district. Last year in September, a baby born with Harlequin Ichthyosis died at Kasturba Gandhi Hospital in the national capital after developing respiratory problems. “It is for the first time we have witnessed a baby born with this skin deformity. Harlequin Ichthyosis involves an ‘ABCA 12’ gene defect.”, said Dr Maruti Sinha, a Senior Consultant Obstetrician and Gynaecologist to Mail Today, a sister publication of India Today.

Chances of Survival

According to an article by Hindustan Times, there is no cure for the disease but it can be managed with treatment. The disease is considered fatal, however, with intense neonatal care and advance technology, a higher survival rate has been achieved. In September 2015, British tabloid Daily Mail named 23-year-old Stephanie Turner as the oldest person in the US to live with Harlequin Ichthyosis, which causes her skin to grow seven times faster than normal and appear thick and tight.

In conclusion, a video of a baby born with a fatal, rare genetic disorder Harlequin Ichthyosis is being shared on social media with unscientific claims that the child was an ominous demon who took the life of the mother and a nurse who touched him. While we are unable to trace the origins of the video, it is evident that the claims circulating on social media are false. Donate to Alt News!
Independent journalism that speaks truth to power and is free of corporate and political control is possible only when people start contributing towards the same. Please consider donating towards this endeavour to fight fake news and misinformation.

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What is Harlequin Ichthyosis?

Harlequin ichthyosis is a recessively inherited disorder. Individuals must inherit two recessive genes in order to show the disease, one from each parent, but the parents (“carrier”) show no signs of the ichthyosis. (For more information on the genetics of harlequin ichthyosis refer to FIRST’s publication, Ichthyosis: The Genetics of Its Inheritance.) Recently the cause of harlequin ichthyosis was traced to the ABCA12 gene. The ABCA 12 gene is believed to encode a transporter protein involved in the transport of epidermal lipids across cell membranes. Identification of this gene will make DNA-based prenatal diagnosis possible.

What are the Signs and Symptoms?

Harlequin ichthyosis is an extremely rare form of ichthyosis and the most severe. The newborn child is covered with plates of thick skin that crack and split apart. The thick skin plates can pull at and distort facial features. The tightness of the skin pulls around the eyes and the mouth, forcing the eyelids and lips to turn inside out, revealing the red inner linings. The chest and abdomen of the infant may be severely restricted by the tightness of the skin, making eating and breathing difficult. The hands and feet may be small, swollen, and partially flexed. The ears may appear to be misshapen or missing, but are really fused to the head by the thick skin. Harlequin infants need to be cared for in the neonatal intensive care unit immediately.

Premature birth is typical, leaving infants at risk for complications from early delivery. These infants are also at high risk for difficulty breathing, infection, low body temperature, and dehydration. Constriction and swelling of the mouth may interfere with the suck response and infants may need tube feeding. Medical monitoring is difficult because of the abnormal skin; electrodes cannot be placed effectively and blood vessels cannot be seen under the skin. Placing lines in the artery and vein of the umbilical cord can aid in monitoring the infant and delivering fluids and nutrition. These infants may have problems maintaining normal levels of electrolytes, especially sodium in their blood. They are particularly prone to develop hypernatremia (high sodium levels in the blood). The baby’s corneas need to be lubricated and protected if the eyelids are forced open by the tightness of the skin. A high, humidity environment in a heated incubator is necessary to help maintain body temperature and to prevent the skin from cracking.

How is it Diagnosed?

Doctors frequently use genetic testing to help define which ichthyosis a person actually has. This may help them to treat and manage the patient. Another reason to have a genetic test is if you or a family member wants to have children. Genetic testing, which would ideally be performed first on the person with ichthyosis, is often helpful in determining a person’s, and their relative’s, chances to have a baby with ichthyosis. Genetic testing may be recommended if the inheritance pattern is unclear or if you or a family member is interested in reproductive options such as genetic diagnosis before implantation or prenatal diagnosis.

Results of genetic tests, even when they identify a specific mutation, can rarely tell you how mild or how severe a condition will be in any particular individual. There may be a general presentation in a family or consistent findings for a particular diagnosis, but it’s important to know that every individual is different. The result of a genetic test may be “negative,” meaning no mutation was identified. This may help the doctor exclude certain diagnoses, although sometimes it can be unsatisfying to the patient. “Inconclusive” results occur occasionally, and this reflects the limitation in our knowledge and techniques for doing the test. But we can be optimistic about understanding more in the future, as science moves quickly and new discoveries are being made all the time. You can receive genetic testing through the Yale University’s Disorders of Keratinization study with Dr. Keith Choate or for more information about genetic tests performed you can visit GeneDx,

What is the Treatment?

The thick plate-like skin will gradually split and peel off. Antibiotic treatment may be necessary to prevent infection at this time. Administration of oral etretinate (1 mg./kg. body weight) may accelerate shedding of the thick scales. Most harlequin infants will need one-on-one nursing care for the first several weeks of life.

In the past, these infants rarely survived the first few days of life. However, with recent advances in neonatal care and perhaps with the administration of etretinate, 1 mg./kg. body weight, harlequin infants can survive. Several surviving children are now in their teenage years, with several in their twenties. The surviving children display dry, reddened skin, which may be covered by large thin scales, and sparse hair. Physical development may be delayed by the enormous calorie needs their skin function demands, but mental and intellectual developments are expected to be normal. Harlequin ichthyosis demands a meticulous skin care regimen to keep the skin moisturized and pliable and to prevent cracking and fissuring that may lead to infection.

It takes a week or two for etretinate to work loosening the scales. Because most of the fatalities from this condition occur in the first few days of life, many of the successes attributed to etretinate use in the medical literature may be equally due to the high quality of care in the immediate newborn period and to a less severely affected newborn. Some newborns with harlequin ichthyosis will not survive, even with the best of care, because of the severity of their condition.

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  • Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care

What Is Harlequin Ichthyosis? Mom Bathes Her Baby in Bleach Because of This Rare Genetic Disorder

A mother from Washington State has raised more than $14,000 for her son’s medical care after he was born with a rare disease that causes severe facial abnormalities and thick, scaly skin on his entire body. The 1-year-old’s condition is so severe that he requires hour-long bleach baths to protect his skin from dangerous infections, and needs to have Aquaphor applied head-to-toe every two hours.

In May, 2017, Jamison Spam was born with harlequin icthyosis (HI)—a rare genetic condition that affects about one in 500,000 people, according to the National Organization for Rare Disorders, or about seven births annually in the U.S. To develop HI, babies must inherit two copies of an abnormal gene, one from each parent. Because the disease is recessive, parents can be carriers of this gene without exhibiting the disease themselves.

Even before he was born, his mother, Alicia Kay, and her doctors knew Jamison was sick. “I had surgery during my pregnancy, mid and pic lines, over 150 IVs, and was told 7 months into my already high-risk, traumatic pregnancy that he would not make it,” Kay wrote on GoFundMe. But despite doctors’ warnings that Jamison would be stillborn, she continued, “he came out crying and I knew he was going to fight.”

Image zoom Alicia Kay/Go Fund Me

Jamison was, however, born with serious health issues. HI causes excess skin to grow in thick, scaly plates that can crack and split apart. This can affect joints and cause mobility issues and often affects the shape of the eyes, ears, nose, and mouth. Skin is pulled tightly around the eyes and the mouth, for example, forcing the eyelids and lips to turn inside out and appear bright red.

RELATED: I Have Vitiligo. Here’s What It’s Like to Live With This Rare Skin Condition

Because Jamison’s skin can’t shed harmful bacteria the way healthy skin can, USA Today reports, even a tiny cut could cause a life-threatening infection. Everything he touches has to be disinfected regularly, and he gets bleach baths twice a week—a process that’s so painful, his mother gives him morphine beforehand. Jamison’s parents also have to scrub off his excess skin with an exfoliating mitt.

In addition to his extensive skincare regimen, Jamison also has his temperature checked every two hours to make sure he’s not overheating. He also receives eye care, respiratory care, physical therapy, occupational therapy, and speech therapy.

“Because ichthyosis is a life-long condition, and because there is no cure, the goal of treatment is to alleviate symptoms and relieve pain/discomfort,” Jamison’s mother wrote on her GoFundMe page. She created the page to raise money for the family to travel to a conference in Nashville that will connect them with doctors, researchers, and other families dealing with the same condition.

About a month ago, the fundraiser reached its $6,000 goal, paving the way for the family to travel to Nashville. Kay continues to raise money for Jamison’s care, having now raised enough for a medical device called a nano-bubbler, which the family’s insurance company had twice denied. According to USA Today, the nano-bubbler provides a safer way to bathe Jamison, by exfoliating the skin with oxygen-filled bubbles.

“No more bleach baths once we have the Nano Bubbler equipment!” Kay wrote yesterday in an update on her GoFundMe page. “Thank you for making Jamison’s life more comfortable, coming from my heart I am so emotional.”

RELATED: 11 Celebrities Who Battled Postpartum Depression

According to a 2017 case report in the Proceedings in Obstetrics and Gynecology, HI is often fatal in the neonatal period, before a fetus develops to full term. In the womb, babies with HI are at high risk for hypo- or hyperthermia, dehydration, respiratory distress, malnutrition, seizure, and other life-threatening complications.

If babies with the disease are born alive, they may survive “for several months or years in very rare cases,” the report states. The authors describe one baby born with HI at their hospital, who was “doing well” until her sixth day of life when she developed a skin infection. Despite treatment with antibiotics, she died at 11 days old.

But there are also are some inspiring stories of babies defying the odds. In 2013, the Foundation for Icthyosis and Related Skin Types (FIRST) published the story of a now 25-year-old woman named Stephanie who was born with HI. Stephanie’s parents were able to take her home after a month in the hospital, and, like Jamison’s parents, were tasked with caring for her skin, eyes, and other disease complications on a daily basis.

Things got better for Stephanie: “With the exception of a few hospital trips due to skin infections, I was just like any other child starting kindergarten at 5 years old,” she wrote. “I did have to rest a little more than the other kids and I had to stay in the classroom and play inside when it was too hot outside.”

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According to FIRST, Stephanie is the second-oldest known person living in the United States with harlequin ichthyosis. In 2013, she and her husband also welcomed a baby boy—becoming the first known woman with the disease to give birth.

As for Jamison, his parents were happy to celebrate his first birthday last month, a milestone doctors thought he wouldn’t live to see. “Jamison is the strongest, bravest, little boy I have ever met,” his mother wrote on GoFundMe. “He overcame many challenges, and continues to do so.”