Harlequin ichthyosis – Survivors, Symptoms, Treatment

Harlequin ichthyosis refers to a skin disorder characterized by excessive thickening of the skin’s keratin layer in the human fetuses. It is believed to be most severe kind of congenital ichthyosis. Some of the other names of the disease include harlequin baby, harlequin-type ichthyosis, ichthyosis congenital, ichthyosis fetalis, keratosis diffusa fetalis, harlequin fetus, and ichthyosis congenita gravior.

People affected by harlequin ichthyosis elicit diamond shaped scales that occur on the skin in large amounts. They are typically reddish. Additionally, the eyes, ears, penis and other appendages may be irregularly slender and constricted.

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The movement of the infant with harlequin ichthyosis is severely limited due to the scaly keratin. Broken or cracked skin can be observed in those areas that typically consist of skin folds. These parts are at increased vulnerability to invasion by bacteria and other microbes, which can then result in formation of deadly infections.

It is easy to verify the occurrence of harlequin ichthyosis due to the presence of the many scales as well as the noticeable facial expression seen on the affected infant. The scales are normally caused due to elevated hyperkeratosis. Doctors can detect the condition in the uterus through a fetal biopsy or via a morphologic investigation of amniotic fluid cells obtained by amniocentesis.

It is also possible for doctors to currently identify common features of harlequin ichthyosis by way of an ultrasound that is followed up with a 3D ultrasound, to come to a firm conclusion about the presence of the disease.

Harlequin ichthyosis symptoms

Some of the signs and symptoms of harlequin ichthyosis are listed below:

  • Severe deformities of the face and the cranium can be observed in the patients
  • The affected babies typically bleed at the time of birth or post birth
  • The nose and/or the ears may experience retarded, incomplete or very poor growth, or they may be absent
  • Extreme ectropion which is a disorder featuring inverted eyelids may be noticed. This can in turn increase the vulnerability of eye infections as well as of the of adjacent areas
  • The patients of harlequin ichthyosis may also experience eclabium, a disorder which causes the lips to permanently set into a wide grimace. The dry skin is what causes the lips to stretch in this abnormal manner
  • Most sufferers of harlequin ichthyosis also exhibit deformities of the fingers, arms and feet, which do not allow them to bend properly. They may also be comparatively smaller in size.
  • One may also observe hypoplasia of the fingers which can result in problems while grabbing objects
  • The infants affected by harlequin ichthyosis may elicit Polydactyly, which is condition that leads to growth of one or more than usual number of toes or fingers.
  • The affected individuals may not have the capacity to fully expand the chest to draw sufficient amounts of air. This restricts their respiratory options, increasing the vulnerability to hypoventilation and eventual failure of the respiratory system.
  • The hardened and scaly skin also restricts water retention, often leading to dehydration in the patient
  • The broken up, plated skin prevents the elimination of heat from the body. This can increase the susceptibility of harlequin ichthyosis patients to temperature changes, ultimately resulting in hyperthermia

Causes of harlequin ichthyosis

  • Harlequin ichthyosis is associated with a mutation in the gene related to manufacture of ABCA12 protein. Such mutation can affect 1 baby in every 200,000 to 300,000 births.
  • The genetic mutation of harlequin ichthyosis causes malfunction of the lipid layer of the skin, which is partly responsible for water retention and protection of the skin from external factors. Additionally, it is vital to prevention of scaly and dry skin. Hence, such dysfunction of the lipid layer causes formation of scaly and dry skin

Harlequin ichthyosis treatment

  • During the olden days, most patients of harlequin ichthyosis died early due to various reasons such as sepsis, restricted respiration, dehydration and other related causes. However, the most common cause of deaths was systemic infection. Babies suffering from harlequin ichthyosis generally did not live for more than a few days.
  • Advancements in the fields of medicine, research and care has currently reduced the high rate of instant demise of harlequin ichthyosis patients. Isotretinoin or Isotrex is mostly used to manage the symptoms of the condition. However, the effects of the new treatment procedure on the survival rate of the affected individuals have yet to be identified.

Harlequin ichthyosis survior

  • Ryan Gonzalez who was born in 1986, is the oldest surviving American affected by harlequin ichthyosis.
  • Nusrit “Nelly” Shaheen is world famous as the oldest survivor of harlequin ichthyosis.  Born in the year 1984, she currently resides in the UK. She is one among nine children. Four of her siblings were also affected by the disorder and died as babies.
  • Born in the year 1994, Hunter Steinitz is another American affected by harlequin ichthyosis. One can check out his profile on the National Geographic special documentary “Extraordinary Humans: Skin”
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