Iktiosis Harlequin, A Rare Disease That Makes Sobek Susceptible Baby Skin


Every parent wants his baby to be born into the world perfectly and in good health. However, there is a risk that babies will be born disabled even though parents have tried to protect their pregnancies. Because, birth defects can arise due to genetic factors. Harlequin ichthyosis is a condition of rare birth defects due to genetic mutations that can be fatal. See the full information below.

What is Harlequin iktiosis?

Harlequin mitosis is a skin disease caused by the mutation of the ABCA 12 gene. The ABCA 12 gene serves to help channel fat to the top layer of the skin. When the gene mutates, the skin is vulnerable to dryness and cracking because it is not supported by the presence of fat. Harlequin Iktiosis is autosomal genetic recessive. That is, you can only get this disease when the gene damage is inherited from both parents.

The Harlequin iktiosis name itself comes from a typical Harlequin clown costume that has a diamond-like patch, just like the skin of a baby who has this disease. When born, the baby will have thick, brownish yellow skin sheets covering the entire body and will limit the movement of the baby. Then, the stiff skin will tear to form reddish and deep skin cracks to show the dermis (the skin's inner layer).

Harlequin motives, symptoms of Harlequin Iktiosis
Harlequin clown costume motif, a symptom of Harlequin Iktiosis

What are the signs and symptoms?

Newborns who experience Harlequin iktiosis will generally have a thin skin texture, look cracked, and appear crusty. In addition, they will also experience various other symptoms. Among them:

  • Limited breathing ability.
  • The hands and feet are small, swollen and appear to be partially bent. In addition, the hands and feet also appear to be wrapped in "hard gloves" or mucoid membranes.
  • Deformed ears and nose
  • High levels of sodium in the blood.
  • Small head
  • The eyelids are upside down, the inside appears outside (ectropion). Accompanied by swelling of the conjunctiva
  • Mouth wide open and lips fold out
  • There are limitations to joint movements
  • Cataract
  • Dehydration
  • More number of fingers and toes than usual
  • Sudden cardiac arrest

Is this type of disease very dangerous?

The Harlequin Iktiosis is a rare condition. Based on medical records, only 1 baby out of 300 thousand live births developed this disease. Although rare, this disease is very dangerous and can even be deadly.

Yes, this disease has a very high mortality rate. Babies who experience this disease generally die after 2 days of birth. This is due to severe inflammation and breathing disorders. Breath disorders are caused by limited chest deflection due to a hyperkeratosis and bone deformity.

In addition, babies who have Harlequin iktiosis generally also have difficulty breastfeeding, causing dehydration and hypoglycemia. Troubled skin conditions then cause more fluid to be released through the skin, so that dehydration will get worse. Hypoglycemia, severe dehydration, electrolyte disturbances, kidney disorders, and skin infections are the causes of high mortality in infants with this disease.

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

Can it be detected during pregnancy?

Yes. Ultrasound during pregnancy can help doctors detect the risk of birth defects early on. On an ultrasound scan, a fetus experiencing Harlequin iktiosis will generally be with an open mouth, lips that look wide, a flat nose, and an abnormal ear shape. His legs and hands also look unnaturally bent. You can also see the eyelids folded out, called ectropion.

How is the disease treated?

The handling of the Harlequin iktiosis is divided into 3 main stages, namely:

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

In addition to the main handling, several other treatments are needed such as:

  • Provision of retinoid drugs (such as isotretinoin and acitretin) to prevent cracked skin
  • Applying a baby skin moisturizing cream, immediately after bathing and given continuously repeatedly.
  • Giving pain medication to control pain due to interference with the skin.
  • Eye consultation to prevent blindness.
  • Hospitalization in the NICU (intensive care unit for newborns) to better monitor the patient's condition
  • Placing babies in damp incubators for loss of body fluids and disruption of body temperature.
Iktiosis Harlequin, A Rare Disease That Makes Sobek Susceptible Baby Skin
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