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Harlequin ichthyosis

Harlequin ichthyosis is an abnormal skin condition, wherein the keratin layer of the fetal human skin experiences excessive thickening. It is considered as the most severe form of congenital ichthyosis. Other common names of the skin disease include ichthyosis congenital, harlequin baby, harlequin-type ichthyosis, harlequin fetus, ichthyosis fetalis, ichthyosis congenitagravior, and keratosis diffusa fetalis.

The range of motion in harlequin ichthyosis affected infants is severely limited because of the scaly keratin skin layer. The different body areas which have skin creases and folds may experience broken or cracked skin, which in turn increases the risk to invasion by bacteria and other microbes, eventually resulting in the development of deadly infections.

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The skin of harlequin ichthyosis patients features extensive diamond-shaped scales that are generally reddish in color. Additionally, the eyes, ears, penis, and other varied appendages may be abnormally constricted and slender.

The presence of numerous abnormal diamond-shaped reddish scales on the skin and the very evident painful facial expression on the affected infant’s face makes is very easy to detect an underlying case of harlequin ichthyosis.The scales are normally caused due to severe hyperkeratosis. Different research studies have linked the disease to an error occurring in the gene which passes information/instructions to the ABCA12 protein.

Harlequin ichthyosis can now be easily detected in the uterus itself, via varied procedures such as a morphologic analysis of amniotic fluid cells collected by amniocentesis, or a biopsy of the fetal skin. Additionally, doctors can also use an ultrasound to identify the common features of harlequin ichthyosis, and later arrive at a definite conclusion via a 3D ultrasound follow-up procedure.

Symptoms of harlequin ichthyosis

Infants with harlequin ichthyosis often bleed during and/or after delivery. Some of the common signs and symptoms of harlequin ichthyosis, as per the body part affected, are discussed below.

Respiration and other vital body processes

  • The skin defects prevent the chest from fully expanding and drawing in sufficient amounts of oxygen. This can restrict the respiration options, increasing the susceptibility to hypoventilation and respiratory system failure.
  • The plated skin does not allow retention of adequate water, leading to extreme and multiple instances of dehydration.
  • The process of normal heat loss is hampered by the armor-like, cracked skin. This can cause harlequin ichthyosis patients to suffer from temperature changes in the body, ultimately resulting in hyperthermia.

The limbs

  • Most people with harlequin ichthyosis suffer from deformities of the arms, feet, and fingers. This can restrict full limb functionality. The limbs may also be smaller than usual.
  • The fingers may be affected by hypoplasia. This can pose problems in grabbing objects.
  • The occurrence of one or more than the usual number of toes or fingers may be noticed in affected babies. This condition is called polydactyly.

The face and cranium: The face and cranium may experience severe deformities as listed below:

  • The lips may be permanently fixed into a wide frown. The dry skin tends to stretch out the lips into this abnormal state. This condition is referred to as eclabium.
  • Incomplete or poor growth of the nose and/or ears. They may also not grow at all.
  • Harlequin ichthyosis patients may experience severe ectropion, wherein the eyelids remain inverted. This can pose elevated threat to infections of the eyes and of the adjacent areas.

Causes of harlequin ichthyosis

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In humans, harlequin ichthyosis is caused because of a genetic mutation which is associated with a protein called ABCA12. This type of genetic error can affect one newborn in every 200,000 to 300,000 live births.

The genetic mutation linked with harlequin ichthyosis adversely affects the lipid layer of the skin. It may be noted that the lipid layer plays an important role in the retention of water in the body, and in guarding it from the harmful effects of environmental elements. It also helps in prevention of scaly and dry skin.

When the gene experiences mutation, it results in malfunction of the skin’s lipid layer. This then leads to excessively dry skin and eventual development of scaly skin and other skin defects.

Treatment of harlequin ichthyosis

Before the beginning of the modern medical age, most infants suffering from harlequin ichthyosis died at a very young age due to varied causes such as extensive infection or sepsis, restricted breathing capacity which ultimately resulted in respiratory failure, severe dehydration, and other assorted medical complications.However, the most prevalent cause of fatalities was systemic infection. In most cases, infants with harlequin ichthyosis lived for just a couple of days to a week.

In today’s world, a deeper and wider understanding of the human anatomy and the functionality of varied organs, and the immense progress achieved in technology, medicine, and medical care has considerably reduced the rate of instant demise of harlequin ichthyosis patients.

The most widely used medicine to control the symptoms of harlequin ichthyosis is Isotrex/Isotretinoin. It may however be noted that the medical advancements and modern treatment procedures are a recent occurrence, and hence the life expectancy of people with harlequin ichthyosis is yet to be empirically determined.

Harlequin ichthyosis – pictures

harlequin ichthyosis baby photo Harlequin ichthyosis picture hunter steinitz  harlequin ichthyosis



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