Harlequin Ichthyosis

Harlequin Ichthyosis: Causes, Complications, Symptoms, Diagnosis & Treatment

Harlequin ichthyosis is a rare disease

Harlequin ichthyosis is one of the rare medical diseases in the world. It was first found in 1984 in Bermuda.

What is Harlequin ichthyosis?

Harlequin ichthyosis is a serious genetic disorder of the skin. This is mainly seen in the case of infants. This disease is caused by autosomal recessive gene.

It is a rare incurable disorder, mainly seen on the skin. It is also known as Harlequin Baby Syndrome, Harlequin Fetus. The name Harlequin was first used in 1966 by James W. Lance and his collaborator Peter Drummond. He found the resemblance of the half-red face of a person with the disease to the Harlequin mask of the famous Italian comedia del'art, hence the name.

Other names for Harlequin ichthyosis:

1.Harlequin ichthyosis

2.Hyosis fetalis,

3. Keratosis diffusa fetalis,

4. Harlequin fetus,

5. Ichthyosis congenita gravior.

What happens at Harlequin ichthyosis?

Children's skin becomes much harder and thicker. The shape of the skin becomes like a diamond because of the formation of fissures in the skin.

One of the important functions of our skin is that it protects us from all kinds of substances that are harmful and harmful to the external environment and also fixes how much water we need to get out through our skin.

In Harlequin ichthyosis, the skin is unable to maintain this balance, which results in excess water leaking out and fissures on the skin, which later become diamond-shaped (this is one of the most important symptoms of Harlequin ichthyosis).

Also, due to the imbalance in the skin, the body temperature is out of control and infections are easily caused.

Causes of Harlequin ichthyosis:

As mentioned earlier, this is a genetic disorder.

The main reason for this is the mutation of the ABCA12 gene located in the 2nd chromosome of human.

(Main cause is: Mutations in ABCA12 gene present in 2nd chromosome.)

One of the many functions of the ABCA12 gene is that it produces a protein that is essential for the normal formation of our skin.

The function of protein is to bring fat to the outermost layer of our skin which helps us to balance with the external environment.

But mutations in the ABCA12 gene cause the skin to lose this ability.

This deadly genetic disorder is caused by a mutation in a latent gene called ABCA12. This gene plays a role in the formation of a transporter protein molecule in the body, which transports fat to the outer layer of the skin and aids in its development. Mutations in genes inhibit the production of ABCA12 proteins from cells. Disrupts the normal development of the skin, which is why such a strange looking baby is born.

Heredity of Harlequin ichthyosis

This gene is transmitted from parent to child in an autosomal recessive pattern. This means that the condition is manifested when a child receives a copy of a pair of mutants or defective genes from both parents. And if he gets a copy of the gene from anyone, he will be a carrier, in which case there is no possibility of disease transmission. Harlequin ichthyosis is a very rare disease. About 1 in every 500,000 people is infected.

Complications of Harlequin ichthyosis:

1. Infection

2. problems with body temperature (problems in controlling body temperature)

3. Dehydration (water vacuum)

4. Breathing problem.

Symptoms of Harlequin ichthyosis

This disease mainly affects the skin. Affected children are born with the following characteristics-

Dry skin, thick diamond-shaped patches of skin (hyperkeratosis);

Gradual bleeding may occur from broad dark cracks, like branches, between the patches;

The lower eyelids hang outwards (extropion) and the two eyes become swollen in front;

The outer ear may be missing, making the ear look like a hole;

The nose is flat, the lips protrude (eclabium), which causes difficulty in eating;

Microcephaly.

Defective skin development can lead to various complications later on.

Dehydration may occur;

Body temperature may become uncontrolled;

There may be an infection in the blood (sepsis);

There may be breathing problems.

Diagnosis of Harlequin ichthyosis

Harlequin ichthyosis is diagnosed based on the following factors:

Physical examination of the baby, which can be confirmed depending on the presence of skin;

By identifying defective genes through genetic testing;

Ultrasound technology during pregnancy can give an idea about the presence of the disease.

Treatment of Harlequin ichthyosis:

1. Mainly Supportive care & Management of Hyperkeratosis and skin barrier dysfunction.

2. Using of moisturizing cream and antibiotics for that

However, the lifespan of a child with this disease is usually not more than 6 months.

There is no permanent cure for this disease. However, it is usually possible to save an infected child through intensive care and supportive care. Complications of the disease should be prevented or treated according to the early diagnosis. Survival in the first few weeks after birth reduces the risk. The newborn needs the following initial treatment-

The baby needs to be kept in an incubator to maintain body temperature and humidity. The incubator should be moist and sterile and should be kept there until the baby's condition is stable;

Adequate amount of fluid and elixir to prevent dehydration trolley needs to be given;

Isotretinoin is used for skin healing;

Lubricants are used for eye protection;

Surgery can increase the efficiency of the limbs and relieve some of the roughness of the skin.