Harlequin ichthyosis

December 1, 2013 | 0

Harlequin ichthyosis is a skin disorder which is said to be the worst type of inherited ichthyosis. Its main characteristic is excess congealing of the keratin cover in the skin of the fetus. It is called by many other titles too, like harlequin-type ichthyosis, ichthyosis congenital, harlequin baby, harlequin fetus, keratosis diffusa fetalis, ichthyosis fetalis,and ichthyosis congenita gravior. The main cause for this skin disorder is a gene related to a protein called as ABCA12.

A person suffering from this type of skin disorder has excessive formation of red colored diamond shaped scales on the skin. It affects other areas of body too.Various body parts such as limbs, ear, penis, and eyes are abnormal, thin and slender.

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The motor movements of an affected child become limited because of the scales. The split skin is also at risk to attack by bacteria, which in turn can result information of infections that are fatal.


One can diagnose harlequin ichthyosis through presence of diamond shaped scales on the body, and also via the clear unique appearance of the affected baby. Severe hyperkeratosis results in development of scales and diagnosis of this disease in the uterus can be made through biopsy of the fetal skin or through morphologic test of amniotic fluid cells obtained by amniocentesis.For accurate detection of the disorder, medical experts use an ultrasound and then confirm the condition with a 3D ultrasound. This way diagnosis becomes easy.

Symptoms of Harlequin ichthyosis

The symptoms of harlequin ichthyosis include:

  • A person suffering from harlequin ichthyosis experiences severe abnormalities of the face and skull. These are:
    • Upturned eyelids; this leads to infection in eyes plus the surrounding areas.This is a case of severe ectropion.
    • Abnormal growth of ears and/or nose. In some cases ear or nose may not be present.
    • Affected individualsmay also experience eclabium. This is a state that causes the lips to develop into a flat, broad frown.It occurs because the lips become wide and stretch due to dry skin.
    • In most cases, patients experience abnormalities of the hands, fingers, and feet, which prevent them from doing simple activities such as bending. Additionally, the feet, arms, and fingers can be lower than the normal size and may suffer from polydactyly. This is a disorder where extra fingers or toes may occur.Patients may also experience hypoplasia, which leads to difficulty in holding things.
    • There is a high chance of hypoventilation and breakdown of the respiratory system.This occurs because of the abnormal skin that restricts the breathing process by damaging the ability of the chest to completely expand and take in enough air.
    • Spilt skin prohibits the regular loss of heat from the body which makes the individual vulnerable to change in temperatures; this further leads to formation of hyperthermia. Also, plated skin can cause dehydration as it stops the preservation of water.

Causes of Harlequin ichthyosis

The main cause for harlequin ichthyosis is change in a protein gene called as ABCA12. This change may happen in a single infant out of every two thousand to three thousand births.

Harlequin ichthyosis causes malfunctioning of the lipid cover of the skin. This layer helps the skin in preserving water as well as guarding it from other exteriors elements. This layer also performs an essential role in prohibiting dry and scaly skin. A change in the ABCA12 protein gene results inmalfunctioning of the lipid layer and this leads to excess dryness and development of scales on the skin.

Treatment of Harlequin ichthyosis

Harlequin ichthyosis has caused several deaths because of many reasons such as infections, respiratory failures, dehydration, sepsis, or because of some other related cause. But the most frequent cause for harlequin ichthyosis fatalitieswas ‘systemic infection.’ Harlequin ichthyosis babies used to live for only some days.

However, advancement of technology and research in the medical field has reduced the occurrence of instant death rate. Medicines such as Isotrex or Isotretinoin are used for treatment. This medicine is said to be the best drug to control the condition. However, the life spanof patients has not been determined as yet; even with the help of the new treatment techniques.

Harlequin ichthyosis surivors

Some of the survivors of Harlequin ichthyosis are as follows:

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  • The oldest survivor of this skin disorder is Nusrit Shaheen, nicknamed Nelly. She is a resident of United Kingdom and was born in 1984. Four of her siblings also suffered from Harlequin ichthyosis; they died soon after birth when they were still babies. She is one amongst nine children, studying sports coaching and leadership at Hereward College, and has an active lifestyle.
  • Another survivor is Ryan Gonzalez, who is from the United States of America and was born in 1986. He is the oldest patient in America.
  • Hunter Steinitz, also born in the United States of America in 1994 is another survivor. His details are available on the National Geographic special “Extraordinary Humans: Skin”
  • Najmul Hasan Kazim Taqvi from India and born in the year 2008 is also a survivor of this disease.

Harlequin ichthyosis pictures

Here are the photos of the survivors of Harlequin ichthyosis

Harlequin Ichthyosis Hunter Steinitz Harlequin Ichthyosis Nelly Nusrit Shaheen Harlequin Ichthyosis Nusrit Shaheen Harlequin Ichthyosis surivor Lucy Betts harlequin-ichthyosis-baby-300x221 harlequin-ichthyosis-survior-Ryan-Gonzalez-300x214

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