DIAGNOSTIC AND TREATMENT TECHNOLOGIES
Diagnosis
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Advances in fetal DNA analysis and ultrasound technology is used to identify ABCA12 mutations in advance and diagnose someone with Harlequin ichthyosis before they are born. Fetal DNA is obtained from the amniotic fluid or the placenta of the mother, and having a fetal DNA analysis is recommended to parents who had a previous child with Harlequin ichthyosis since the disorder is genetic.
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In some cases, prenatal ultrasonography can allow the detection of physical signs of Harlequin ichthyosis, such as rudimentary ears. Three-dimensional ultrasounds can also be used to detect facial abnormalities, such as protruding eyes. Even though most facial features are not detectable until the second trimester of the pregnancy, which excludes the option of early termination in the child's life, the child's parents are able to know if their child has Harlequin ichthyosis before they are even born.
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Initial Treatment
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A newborn with Harlequin ichthyosis will require neonatal intensive care, which involves the newborn spending several months in a heated incubator with high humidity to retain moisture. The newborn will also sometimes need a feeding tube to prevent malnutrition and dehydration due to their lips being pulled tight.
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Other initial treatments might include:
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• Applying retinoids to help shed hard, scaly skin
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• Applying topical antibiotics to prevent infection
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• Covering the skin in bandages to prevent infections
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• Placing a tube in the airway to help with breathing
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• Using lubricating eye drops in the eyes
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Maintenance
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The skin is a crucial organ that protects the body from pathogens, regulates body temperature and prevents fluid loss. Since there is no cure at the moment for Harlequin ichthyosis, people living with the disorder spend extra time keeping their skin clean, moist and supple. This is because of the fact that the dry, tight skin that they are born with cracks easily and can become vulnerable to infection.
People with Harlequin ichthyosis will take oil baths for up to four hours a day and will then apply ointments and moisturizers right after, while the skin is still moist.
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Example of products that contain moisturizers:
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• Glycerin
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• Alpha-hydroxy acids (AHAs)
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• Cholesterol
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• Lanolin
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• Petrolatum
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• Amlactin
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People with Harlequin ichthyosis can also take oral retinoids to remove the extra skin by itself or physically rubbing off the extra skin using special exfoliating gloves/materials to prevent constriction of the body.
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The procedure of fetal DNA collection and analysis (refer to the image above), which involves a collection of the mother's amniotic fluid for testing of the ABCA12 gene mutation found in Harlequin ichthyosis.
A series of 2D and 3D ultrasounds of a fetus with Harlequin ichthyosis from the prominent feature of their protruding eyes, thickened lips and open mouth (refer to the image above).
Figure A: A 1-day-old newborn with Harlequin ichthyosis in the ICU under a heated incubator.
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Figure B: A 4-month-old infant (the same person as figure A) whose symptoms have drastically improved after receiving intensive neonatal care and acitretin (an oral retinoid used to treat severe psoriasis in the disorder) at 0.5 mg/kg per day.
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(Figures A and B are both above)
An infant with Harlequin ichthyosis taking a 2-hour long oil bath to maintain and keep their skin from cracking and getting infected (refer to the image above).
