Have you everParentsheard aboutHarlequin ichthyosis? This disease is a congenital disorder that causes the skin to become very dry and cracked and look abnormal.
IfParentsHave you ever seen news about babies born with abnormal appearance, almost white skin and split with red eyes? If so, that is an example of a caseHarlequin ichthyosis.
Let’s get to know more about this condition through the following review.
Definition of Harlequin Ichthyosis
Quoting fromMedlinePlus,Harlequin ichthyosis(IH) is a rare genetic disorder that affects the skin. IH is one form ofichthyosis, a disorder that causes skin cells to regenerate too slowly or too quickly, causing the skin to become very dry and scaly all over the body.
Babies with this condition are usually born prematurely with very hard, thick skin covering most of their body. The skin forms large, diamond-shaped plates separated by deep fissures or cracks.
This skin disorder generally affects the shape of the eyelids, nose, mouth, and ears, and limits the movement of the arms and legs. On the face, the plates can make it difficult for the baby to breathe and breastfeed, requiring intensive care as soon as possible.
When science was not as advanced as it is today, it was very rare for babies with IH to survive after birth. However, with intensive medical support and better care, babies with this disorder now have a better chance of surviving into childhood and early adulthood.
Symptom
Here are some common symptoms that occur in babies who experienceHarlequin ichthyosis:
- The body is covered with thick, plate-like scales.
- The eyes and mouth are drawn by the very taut skin.
- The eyelids and lips appear to turn inward, exposing the red inner layer.
- Tight skin on the chest and stomach makes it difficult for the baby to breathe and breastfeed.
- The hands and feet are small and swollen, and some of them are bent.
- It looks like it has no ears, but actually the earlobes are attached to the head because of thick skin.
- Flat nose
- Abnormal hearing
- Frequent respiratory tract infections
- Decreased joint mobility
Babies with IH are usually born prematurely so they may have a higher risk of other health complications as well.
IH can also look different in newborns and older infants. In newborns, their skin appears to be covered in thick, hard scales all over their bodies. As they get older, their skin can appear more ‘normal’ but is usually reddish and scaly throughout their life.
Children who suffer fromHarlequin ichthyosismay experience delays in physical development, but their mental development is usually not much different from other children their age.
They may also have other symptoms such as:
- Sparse or thin hair due to scales on the scalp
- Unusual facial features due to stretched skin
- Hearing loss due to buildup of scales in the ear
- Problems with finger movement due to tight skin
- Very thick nails
- Recurrent skin infections
- Overheating due to scales that interfere with sweat production
Causes of Harlequin Ichthyosis in Babies
Harlequin ichthyosiscaused by changes (mutations) in the ABCA12 gene, which provides instructions for making proteins that skin cells need to develop normally.
The ABCA12 gene plays a key role in transporting fats (lipids) to the most superficial layer of the skin (epidermis), and creating the skin barrier (skin barrier) which effectively works to protect the skin from various external factors. When this gene mutates, the formation of the skin barrier will be disrupted.
Some variants in the ABCA12 gene prevent cells from making the ABCA12 protein. Other variants lead to the production of an abnormally small version of the protein that cannot properly transport lipids. Loss of functional ABCA12 protein disrupts the normal development of the epidermis before and after birth, resulting in the severe skin abnormalities characteristic of IH.
Frequency of Occurrence
Harlequin ichthyosisis a rare or uncommon condition. Both sexes, both male and female, are affected in equal numbers. According to the National Organization of Rare Disorders ,Harlequin ichthyosisoccurs in about 1 in every 500,000 births. There is no known racial predilection for this condition.
Risk Factors
It is important to note that IH is a genetic condition that is inherited through an autosomal recessive gene. A person can be a carrier orcarrierwithout actually having the disease. For example, if a person inherits the gene that causes IH from one parent, there is a chance that he or she will be a carrier but not have IH.
However, if a person inherits the affected gene from both parents, then there is a possibility of developing the disease.
When both parents arecarrier, there is a 25% chance that their child will have the condition. That figure applies to every pregnancy with two carrier parents.
There is a 50% chance that the baby will inherit only one copy of the gene and becarrierasymptomatic. There is also a 25% chance that the baby will not inherit the affected copy of the gene at all.
Based on research, this case tends to increase in cultures where the baby’s parents have a fairly close kinship.
Diagnosis of Harlequin Ichthyosis in Infants
Before Birth
Scientists have identified the gene that causesHarlequin ichthyosis. If you are concerned that you and/or your partner arecarrier, then you can discuss pre-conception genetic testing with your doctor before planning a pregnancy .
There have been a few reports of IH being identified through prenatal ultrasound (UDG). If your doctor suspects your baby has this condition, you may need to undergo further testing to get a more definitive diagnosis, such as blood tests or genetic testing.
After Birth
Harlequin ichthyosisusually diagnosed at birth based on physical appearance and can also be confirmed through genetic testing.
Genetic tests performed can also determine the type ofichthyosisthat occurs. However, genetic testing does not provide any information about the severity of the disease or its prognosis.
Complications
Harlequin ichthyosisis a life-threatening condition. In addition to difficulty breathing and feeding, babies born with IH often face other significant health challenges, including:
- Born premature
- Dehydration
- Increased sodium levels in the blood
- High risk of respiratory tract infections
- Risk of eye damage due to eyelids not closing
- Risk of hearing problems
- Temperature dysregulation
- Abnormal fingers
- Arthralgia (joint pain)
- Failure to thrive
- Hypothyroidism
- Short stature
Treatment of Harlequin Ichthyosis in Babies
There is no cure forHarlequin ichthyosis, and the treatments given tend to work to treat symptoms, protect the skin and prevent infection.
After birth, the thick, plate-like outer layer of skin in babies with IH splits and peels away, leaving the vulnerable inner layer of the dermis exposed.
Most babies with IH will need intensive care for the first few weeks of life. Treatment with antibiotics may also be needed to prevent or treat infections during this period.
Their skin will continue to be dry and tend to be very tight throughout their lives. They will require extensive daily care to help exfoliate dead skin and keep the skin moisturized. Other care may include:
- Emollient creams, especially those containing urea, salicylic acid or alpha hydroxy acid to keep the skin moist and supple while preventing cracking and chapping that can cause secondary bacterial infections.
- Oral retinoids (acitretin or isotretinoin) to heal skin cracks, soften or settle scales, and improve overall well-being.
Prevention of Harlequin Ichthyosis
Because it is a condition that occurs due to gene mutation,Harlequin ichthyosiscannot be prevented completely. However, if you and your partner are bothcarrier, you may want to explore assisted reproductive technology to reduce your child’s risk of IH. Discuss this with your obstetrician before planning a pregnancy.
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Babies born withHarlequin ichthyosiswill experience skin disorders throughout their lives, but there are many treatment options that can improve their life expectancy and well-being. Hopefully this information is useful.
Republished with permission from theAsianParent Indonesia
