Harlequin ichthyosis: symptoms, causes, treatment & bull; hello healthy

Definition

What is Harlequin ichthyosis?

Harlequin ichthyosis is a severe congenital abnormality or defect in the skin of a newborn. Harlequin ichthyosis is a rare birth defect also known as Harlequin baby syndrome (Harlequin baby syndrome) or congenital ichthyosis.

The name Harlequin ichthyosis itself comes from the typical Harlequin clown costume which has a diamond-like patch motif. The motive is the same as the skin texture of a baby with this disorder.

When the baby is born, the baby has a thick yellow brownish sheet of skin all over the body which restricts the baby's movement.

Furthermore, the stiff skin will be torn to form reddish and deep skin cracks to reveal the dermis (inner layer of the skin).

That is why babies with this congenital skin disorder are born with a body covered with skin that is very hard, thick, and looks cracked.

Harlequin ichthyosis is a skin disorder that can affect the shape of a baby's eyelids, nose, mouth and ears.

In fact, this fairly rare condition can also limit the movement of the baby's arms and legs.

This limited movement of the baby's body can cause difficulty with eating, difficulty in breathing, and respiratory failure.

Harlequin clown costume motif, symptoms of Harlequin Iktiosis

How common is this condition?

Harlequin ichthyosis is a rare birth defect in the skin of newborns. Quoting from the U.S National Library of Medicine, the number of cases of this condition is not known with certainty.

It's just that about 1 in 300,000 newborns are estimated to have this rare skin disorder.

Although rare, Harlequin ichthyosis is a skin disorder that is very dangerous and can be fatal. This is caused by severe inflammation and breathing problems that the baby experiences due to abnormal skin conditions.

Breathing problems are caused by limitation of movement in the chest due to hyperkeratosis and deformity of the bone shape.

In addition, babies who have Harlequin ichthyosis generally also have difficulty breastfeeding, causing dehydration and hypoglycemia.

The problematic skin condition then causes more fluid to be released through the skin so that dehydration will get worse.

Hypoglycemia, severe dehydration, electrolyte disturbances, kidney problems, and skin infections are the causes of high mortality in infants with this disease.

Babies who are successfully treated in these cases generally have gone through a number of intensive care and retinal therapy. However, they still have the potential to develop a number of other systemic infections.

Signs & Symptoms

What are the signs and symptoms of Harlequin ichthyosis?

The signs and symptoms of Harlequin ichthyosis are usually more severe in infants. However, the symptoms of this congenital skin disorder will generally change with age.

Symptoms of Harlequin ichythyosis in newborns

Babies with this congenital skin disorder are usually born prematurely. This means that the baby has a high risk of complications due to being born prematurely and having this rare skin disorder.

Newborns who experience Harlequin ichthyosis generally will have a thick skin texture, look cracked, and appear crusty.

The skin that looks cracked and crusted is due to being pulled tight, causing it to split. In addition, other symptoms of Harlequin ichthyosis in babies are as follows:

Experiencing breathing problems due to tight chest skin.
Hands and feet that are small, swollen, and appear to be partially bent.
Hands and feet appear to be covered by "hard gloves" or mucoid membranes.
Deformed ears and nose.
High levels of sodium in the blood.
Small head circumference.
Infection of cracked skin.
The eyelids are inverted, the inside is visible outside (ectropion) accompanied by swelling of the conjunctiva.
The mouth is wide open and the lips fold out.
There are limitations to joint movement.
Low body temperature.
Have cataracts.
Experiencing dehydration.
More fingers and toes than usual.

Symptoms of Harlequin ichthyosis in children

The symptoms of Harlequin ichthyosis that occur in children can cause delays in physical development.

However, the mental development experienced by children with this congenital skin disorder is usually the same as that of children their age.

Children with this congenital skin disorder generally have red and scaly skin for the rest of their life. Other symptoms of Harlequin ichthyosis in children are as follows:

Abnormal facial shape due to tight and stretched skin.
Thick baby nails.
Recurrent skin infections.
Thin hair due to the scales on the scalp.
Hearing ability is reduced due to the scales that accumulate in the ear.
Fingers have difficulty moving because of the tight, stretched skin.

When to see a doctor?

Harlequin ichthyosis is a congenital defect that can be easily observed from a newborn. If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person's body is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes Harlequin ichthyosis?

Based on the National Center for Advancing Translational Sciences page, the cause of Harlequin ichthyosis is a mutation in the ABCA12 gene.

ABCA gene 12 functions for the process of forming proteins that play a role in the development of skin cells. In addition, the protein produced by the ABCA12 gene helps transmit fat to the outermost layer of the skin (epidermis).

When the ABCA12 gene mutates or changes, the protein cannot be formed or there are small abnormal proteins but it is not able to transport fat properly.

The loss of the ABCA12 protein disrupts the normal development of the skin in the outermost layer (epidermis). As a result, babies experience symptoms in the form of a hard and thick skin texture due to Harlequin ichthyosis.

The skin acts as a protector of the body with the environment around it. If a baby has this congenital skin disorder, it usually becomes more difficult for him to control the water lost from the body, regulate body temperature, and fight infection.

This is due to the thick and cracked skin texture. That's why babies with Harlequin ichthyosis often experience large amounts of fluid loss (dehydration) and develop life-threatening infections in the first few weeks of life.

It is on this basis that newborns with this congenital skin disorder need to be given intensive care as soon as possible.

Harlequin ichthyosis is an inherited skin disorder that is genetically autosomal recessive or an autosomal recessive gene.

This means that a baby can only get the disease when the defective gene is inherited from both parents.

However, babies can also become carriers (carriers) of Harlequin ichthyosis without experiencing any symptoms of the disorder.

This is because babies who are carriers of this disorder only inherit the gene from one parent.

When a baby who is a carrier (career) marries someone who is also a carrier of Harlequin ichthyosis, their child will have a 25% chance of developing the same condition later.

Thus, the percentage applies to every pregnancy with two parental careers or a parent with Harlequin ichthyosis.

Risk Factors

What increases the risk of getting Harlequin ichthyosis?

As previously explained, the risk of Harlequin ichthyosis in newborns will be even greater if both parents have inherited genes from both parents.

If you are pregnant or planning a pregnancy and are worried because you have a family history of Harlequin ichthyosis, you should further consult your doctor.

The doctor will find out more about the possibility of whether the genetic is carried by you or your partner.

Meanwhile, if you are pregnant and have certain problems related to pregnancy, you should consult your doctor for certain tests.

Genetic testing can usually be done to find out the risk of disease by taking a sample of skin, blood, or amniotic fluid.

Drugs & Medicines

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

The diagnosis of Harlequin ichthyosis during pregnancy can be made through ultrasound examination (USG).

Ultrasound examinations can help doctors detect the risk of birth defects early. On ultrasound scan results, a fetus who has Harlequin ichthyosis is generally characterized by an open mouth, wide-looking lips, a flat nose, and an abnormal ear shape.

The feet and hands of babies with Harlequin ichthyosis also appear to bend unnaturally. In fact, the eyelids of babies who have this congenital skin disorder are generally folded out which is known as ectropion.

In addition, the diagnosis of Harlequin ichthyosis in infants in the womb can also be done by an amniocentesis test, aka taking a sample of amniotic fluid.

Other tests can also be done with a chorionic villus test. This test is intended to check for possible abnormalities in the baby in the womb.

Amniocentesis examination and chorionic villus examination were both used to obtain fetal DNA samples. The fetal DNA sample is then tested for possible mutations in the ABCA12 gene.

What are the treatment options for Harlequin ichthyosis?

The initial treatment for newborns with skin disorders is usually done by placing the baby in an incubator. The temperature inside the incubator must be kept to a high humidity level.

In order for the baby's nutritional intake to be fulfilled, he can be given milk through a tube to prevent malnutrition and dehydration.

Some of the main treatments for Harlequin ichthyosis in infants are as follows:

Maintain and maintain airway.
Protect the baby's conjunctiva with artificial tear drops 2 times a day.
Using the infusion for nutritional and fluid intake. Monitoring of the baby's body electrolyte balance also needs to be done.

In addition to the main treatment, several other treatments for babies are also needed, such as:

Retinoid drugs (such as isotretinoin and acitretin) to prevent skin cracking
Apply a special baby skin moisturizing cream, immediately after bathing and given continuously repeatedly.
Giving pain medication to control pain due to skin disorders.
Eye consultation to prevent blindness.
Be hospitalized at the NICU (intensive care unit for newborns) in order to better monitor the patient's condition
Place the baby in a humid incubator for loss of body fluids and temperature disturbances.

There is no treatment that can really cure Harlequin ichthyosis. However, in addition to the above treatments, you can also keep your baby's skin moisturised and clean.

The reason is, dry and tight skin can make the baby's skin chapped and prone to infection.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.