Harlequin Ichthyosis

 

There are not many diseases or conditions that look more bizarre than Harlequin Ichthyosis.  The Harlequin type of ichthyosis is a severe but very rare genetic skin disorder that gives the affected child exceptionally thick skin that looks like plates or crusts divided by deep red cracks.  The condition affects the fetus while still in utero and is obvious at birth. The cracks in the skin make the child susceptible to infection whereas the very thick scales prevent the baby from moving normally. In the past, Harlequin ichthyosis is fatal, with patients only surviving no longer than a few days after birth.  But advancements in medicine have paved the way for more successful management and treatment of the disease.

Harlequin ichthyosis is a rare and severe congenital skin disease typified by very thick, triangular or diamond shaped skin patches divided by red cracks or fissures. This is the reason why this type of ichthyosis is named after Harlequin, the jester known for wearing costumes with diamond or triangular colorful patches.  The affected child will already display the very distinct characteristics of the disease when born.  The entire body will be covered with scaly, cracked and very thick skin.  The disease is also known as Harlequin-type ichthyosis, ichthyosis congenita, keratosis diffusa fetalis and Ichthyosis fetalis.  Babies born with this skin disorder are called Harlequin babies or Harlequin fetuses.

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Causes

This skin disorder is inherited.  It is a result of the mutation of the ABCA12 gene. Both parents have to be carriers of the faulty gene for the child to receive a pair of the flawed gene.  The parents, as carriers, will not display the symptoms of harlequin ichthyosis but the child that receives both problematic genes will suffer from the disease.

Signs and Symptoms of Harlequin Ichthyosis

A baby with Harlerquin-type ichthyosis will present physical characteristics specific to the disorder.  These include:

  • Dry, diamond-shaped thick skin patches all over the body (hyperkeratosis)
  • Deep, red fissures in between the patches that may ooze and bleed
  • Overly stretched face; underdeveloped or absent nose and ears; averted eyelids (ectropion); pulled lips resembling a wide grimace (eclabium)
  • Deformed feet, hands and arms
  • Microcephaly

These physical deformities also result in symptoms that the condition is known for.  The child will be susceptible to dehydration and infections due to the deep cracks in the skin.  The newborn will also have problem in regulating body temperature which could lead to hypothermia.  The very dry skin likewise limits the child’s movements, causes difficulties in breathing as well as itching and bleeding.  In addition, the baby’s ability to feed or suck milk is hampered which could result in malnutrition.

Treatment and Management of Harlequin Ichthyosis

When a newborn is positive for the signs of the condition, he or she should be under intensive care in the hospital to deal with with the problems presented by the disease, such as infection, breathing problems, feeding difficulties, temperature control and dehydration. To address the problematic skin condition, retinoids and skin creams will be applied.  The thick, dry plates of skin could be reduced in several weeks leaving only tight, red scales all over the body.    However, constant monitoring of the condition as well as intensive treatment of the skin should be done.  If the baby survives, aside from life-long skin treatment, he or she may also need surgery for the eyelids and mouth, physiotherapy and counseling.

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Prognosis

In the past, Harlequin ichthyosis was considered fatal.  The baby dies while still in the womb or shortly after birth.  But with advances in medical care and the use of retinoid, the outlook of individuals with this rare skin condition is improved.  Those who survive the first year have better chances of living longer lives. Even so, continuous care is crucial to prevent serious problems or complications from arising.

Harlequin ichthyosis survivors

Some of those who had managed to survive and live with Harlequin ichthyosis are the following:

  • Nusrit Shaheen – She is from the United Kingdom and is the oldest known survivor. Among the siblings who had the disease, she was the only one who survived.
  • Ryan Gonzalez – He is the oldest survivor of the condition in the United States.
  • Stephanie Turner –The second oldest survivor in the US and the first Harlequin ichthyosis patient to give birth. Her son does not have the condition.
  • Hunter Steinitz – Hunter is one of only twelve people from the US who suffer from the condition.

Harlequin ichthyosis is a severe hereditary disease that goes beyond just having very dry skin.  A Harlequin baby may look really strange and even frightful to some.  But more important than giving weight to the bizarre physical attributes, a child born with the condition should be properly cared for.  Prompt and proper medical attention and intensive care are critical for the survival of the child.

Harlequin ichthyosis pictures

Harlequin Ichthyosis surivor

Lucy Betts

Hunter Steinitz Harlequin Ichthyosis

Hunter Steintz

Harlequin Ichthyosis pictures

Harlequin ichthyosis baby

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