Harlequin Ichthyosis

Harlequin Ichthyosis

Harlequin ichthyosis is an inherited disease that causes abnormalities in the baby's skin from birth. Harlequin ichthyosis is characterized by dry, thick, and scaly skin all over the body.

Harlequin ichthyosis occurs as a result of a genetic disorder that is inherited from both parents. During the formation of organs in the womb, the gene disorder causes the skin components to not form normally.

Harlequin ichthyosis is a fairly rare disease. This condition only occurs in 1 in 500,000 births.

Causes of Harlequin Ichthyosis

Harlequin ichthyosis is caused by mutations or abnormalities in the ABCA12 gene . Normally, this gene functions to produce the ABC transporter protein whose job is to transport fat to the outermost layer of skin ( epidermis ).

ABCA12 gene abnormality in Harlequin ichthyosis causes the production of ABC transporter protein to be inhibited, so that the distribution of fat to the epidermal layer is also disturbed. Without these fatty compounds, the development of skin cells becomes abnormal.

Harlequin Ichthyosis Derivation Pattern

Harlequin ichthyosis is inherited in an autosomal recessive pattern. This means that this disease will only occur in someone who has inherited the ABCA12 gene mutation from both parents. In other words, a person who inherits only the ABCA12 gene mutation from one parent will not suffer from Harlequin ichthyosis .

However, that person will be a carrier of the gene mutation ( carrier) and can pass it on to their children. In this case, the risk of the child developing Harlequin ichthyosis is 12.5% ​​in each pregnancy. The risk will increase to 25% if the partner is also a carrier of this gene mutation.

Symptoms of Harlequin Ichthyosis

Babies with Harlequin ichthyosis are usually born prematurely. The main symptom of this condition is red, thick scaly skin all over the body, including the face. The skin also seems to be pulled tight, so it looks like cracks.

With skin conditions like this all over the body, there are various problems that can occur, including:

  • Upturned eyelids
  • Eyes cannot close
  • The shape of the ears is like one with the head
  • The lips are pulled tight, keeping the baby's mouth open and making it difficult to suckle
  • Difficulty breathing due to tight chest skin
  • Hands and feet are smaller than normal and swollen
  • Infection of the deep layers of the skin
  • Limited limb movement
  • Low body temperature
  • Dehydration with high sodium levels in the blood

As the baby gets older, other problems will arise due to the condition Harlequin ichthyosis . Abnormalities in the overall skin can cause disturbances or abnormalities in the physical growth of children. The following are symptoms that can occur:

  • Nails are thicker than normal
  • It's hard to move the finger because the skin is pulled
  • Thin or sparse hair, because there are scales on the scalp
  • Facial deformity, in which the face looks stretched
  • Hearing loss due to a pile of scales in the ear

Children with Harlequin ichthyosis will also be more susceptible to skin infections. Scales that accumulate on the skin can also interfere with the process of sweating, so sufferers become more susceptible to hyperthermia .

This condition can indeed affect many things physically, but the intelligence and emotional development of children with Harlequin ichthyosis are usually no different from other children of their age.

When to see a doctor

Symptoms of Harlequin ichthyosis will be visible from the moment the baby is born. If your child experiences the above symptoms and is not born at the hospital, immediately take him to the nearest doctor to get initial help and referral to a neonatal intensive care unit  ( NICU ) facility.

If you know of a family history of Harlequin ichthyosis , consulting a doctor should be done before pregnancy. Genetic testing can be done to find out if you and your partner are carriers of this disease.

If you or your partner are already pregnant, consult your doctor about your family's medical history, so that the doctor can be more observant in monitoring the condition of the fetus. Also discuss with the doctor about whether or not an amniocentesis and chorionic villus sampling (CVS) examination is necessary.

Diagnosis of Harlequin Ichthyosis

The diagnosis of Harlequin ichthyosis can usually be made through a physical examination, namely by looking at the signs on the patient's skin. To strengthen the diagnosis, the doctor may also do a genetic test or skin biopsy.

The genetic test aims to determine whether the patient has an ABCA12 gene mutation . In addition, genetic tests can also help doctors determine whether the patient's complaint is caused by Harlequin ichthyosis or other types of ichthyosis .

Doctors can also diagnose Harlequin ichthyosis before the baby is born through amniocentesis and chorionic villus sampling (CVS). Amniocentesis is done by examining a sample of amniotic fluid, while CVS is done by examining a tissue sample in the placenta.

Treatment of Harlequin Ichthyosis

Newborns suffering from Harlequin ichthyosis must be treated and monitored intensively in the NICU room. The first treatment given includes:

  • Putting the baby in the incubator, so that the baby's body temperature is maintained and his skin remains moist
  • Provide breastfeeding aids to prevent malnutrition and dehydration
  • Apply a retinoid cream to exfoliate hard, flaky skin
  • Applying antibiotic ointment and bandaging the baby's skin to prevent infection
  • Instill eye drops or install a device to protect the baby's eyes
  • Insert a tube into the airway to help the baby breathe

Children with Harlequin ichthyosis also need regular control so that their growth and development can be monitored properly.

For people with Harlequin ichthyosis , both children and adults, it is important to keep the skin clean, moisturised, and supple. That way, the skin can protect the body from germs and other harmful substances. Good skin condition will also maintain normal body temperature and fluid levels.

One way to protect your skin is to use ointments and skin moisturizers , especially after every shower. Instead, use a skin care cream that contains rich moisturizing ingredients, such as:

  • Alpha hydroxy acids or alpha-hydroxy acids ( AHA )
  • Petrolatum or petroleum jelly
  • Ceramides
  • Cholesterol
  • lanolin

Complications of Harlequin Ichthyosis

The risk of complications is greater in newborns. The following are complications that can occur if Harlequin ichthyosis is not treated immediately:

  • Arthritis
  • Recurrent skin infections
  • Inflammation of the eye, such as conjunctivitis and keratitis
  • Muscle stiffness in the joints of the body that causes difficulty moving
  • Disturbances in the process of growth and development
  • Thyroid hormone deficiency (hypothyroidism)
  • Breathing too slow or shallow (hypoventilation)
  • Respiratory failure
  • Sepsis

Prevention of Harlequin Ichthyosis

As explained above, Harlequin ichthyosis is a disease caused by a genetic mutation inherited from both parents. Therefore, Harlequin ichthyosis cannot be prevented.

However, you and your partner can do genetic testing early on, especially if you have a family history of this disease. That way, the doctor can find out whether there is an ABCA12 gene abnormality and how much the risk of Harlequin ichthyosis decreases to your child.

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