Harlequin Ichthyosis

Harlequin Ichthyosis is a congenital skin disease which is also known as ichthyosis congenital or Harlequin fetus. This condition in its severe form causes thickening in the keratin layer of the fetal skin.The affected individual will usually have reddish skin with almost diamond-like scales. Thickened and scaly keratin layer significantly restricts the movement. Since the skin has too much open areas due to cracks between scales, it become prone to bacterial infections as well as to other contaminants. In some cases, the skin is also vulnerable to fatal infections. The condition can be characterized by facial expressions of the baby as well as scales appearing on the skin. The condition is said to be resulting due to serious hyperkeratosis.

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Symptoms of Harlequin Ichthyosis

Common symptoms of Harlequin fetus include cranial as well as facial deformities of extreme level. The ear and nose may be inappropriately developed or completely absent. The eyes may be inside-out or everted which is why the eye and surrounding surface is often vulnerable to infections. They have a wide grimaced face due to lips pulled by surrounding dry skin. Fingers, arms and feet are smaller in size than normal and are deformed in almost all cases of ichthyosis congenital. Affected person cannot bend fingers, arms or feet due to malformation. They usually have hypoplasia of fingers which is why they cannot clutch things appropriately. In some cases the patient can barely touch things. Some individuals also have Polydactyly along with the condition wherein the number of fingers or toes is more than normal.

Patients with the condition are also susceptible to temperature changes due to their cracked skin which prevents standard heat loss. This may lead to a condition known as hyperthermia. Their chest are not able to expand and allow inhalation of sufficient air which restricts the respiration. This may results in respiratory issues and hypoventilation. Ichthyosis congenital affected individuals are usually dehydrated as their skin design does not allow optimal retention of water.


Harlequin Ichthyosis is caused due to ABCA12 gene mutation in babies. Such babies obtain one mutated gene from maternal as well as paternal side. Parents are only carrier of such mutated genes and do not show any symptoms of the condition. Carrier parents only have one mutated gene which is why they do not show any symptoms but baby develop symptoms because he/she gets two genes one from each of the parents. Since there are two faulty genes in the baby it becomes affected with the condition.

There are 46 chromosomes in human being which are present in pairs, particularly 23 pairs. Out of these 46, 44 are said to be autosomes; these, in pairs, are numbered from 1 to 22. The remaining two are known as sex chromosomes. Genes and chromosomes are located in cells. Every gene carries genetic information that is beneficial for health and development. Cells have different functions and genetic information vary accordingly. If any mutated gene or faulty gene sends wrong information it may affect the growth and development of the child. Cells may behave abnormally to this anomalous occurrence.

In case of Harlequin Ichthyosis, ABCA12 genes are faulty and supply wrong information to the cell. The basic function of this gene is to give genetic information on ABCA12 protein development which is crucial for lipid transportation to the Epidermis (outermost skin layer). When the supply of fats to epidermis is restricted or ceased, skin is highly affected and poor development is noticed. The skin cannot even perform its basic defensive functions. The skin cannot even avoid infection or prevent loss of fluid. The condition also leads to scaly, dry patches of skin split-up with deep red fissures. Faulty ABCA12 gene also causes Lamellar Ichthyosis which is another less severe clinical anomaly.


The condition can be diagnosed in uterus itself through fetal skin biopsy. Morphological examination of amniotic fluid cells can also help in detecting the issue. Ultrasound can help doctors to generally identify features associated with the condition which is then followed by other 3D ultrasound tests.

Treatment of Harlequin Ichthyosis

Initially, the disease was fatal without any chances of survival. Death occurred due to dehydration, sepsis, respiratory issues and other associated factors. Systemic infection was considered as the most common factor leading to death wherein the affected person could survive only for few days. Notable improvements in the medical industry such as introduction of drugs like Isotretinoin, etc. Treatment for harlequin Ichthyosis should be started in neonatal ICU as the child is susceptible to dehydration, hyperthermia, infection etc. Treatment during early stage is important because later skin-cracks make it difficult. The life expectancy of affected individual has increased significantly with introduction of Retenoids. Some important areas on which the neonatal ICU care would focus includes maintenance of airways, conjunctiva protection, skin protection and intravenous feeding, etc.

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Harlequin Ichthyosis Survivors

There are several cases of Harlequin Ichthyosis recorded in the medical industry. One of the most prominent cases is of Nusrit “Nelly” Shaheen who stands to be the oldest HI affected person in the world and still living. She leads a positive life despite of many barriers which she overcame. Nusrit Shaheen has appeared on many TV shows as well as fundraisers for this condition. Nelly also appeared in “Beauty and the Beast: The Ugly Face of Prejudice” along with Holly a glamour model. Both of them were together for few weeks on the show and shared their perspective of actual meaning of beauty.

Nelly seems to be an inspiring person. She had 8 siblings out of which four others were affected with the same condition but could not survive only survived for a few years. But Shaheen managed to combat the condition and is still living. She is approximately 29 years old and wants to live the life to the fullest. In 2008, she was pursuing her education in leadership and sports coaching at Hereward College. There are other cases of Harlequin Ichthyosis recorded in medical industry such as Hunter Steinitz born in 1994, Ryan Gonzales born in 1986, Stephanie Turner born in 1992 and more.

 Harlequin Ichthyosis Pictures

 Harlequin Ichthyosis baby Brenna Westlake Harlequin Ichthyosis Nelly Nusrit Shaheen Harlequin Ichthyosis pictures Harlequin Ichthyosis survior Nelly Nusrit Shaheen Harlequin Ichthyosis survivor Hunter Steintz harlequin-ichthyosis Ryan-Gonzalez

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