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Harlequin Ichthyosis – Pictures, Survivors, Symptoms, Causes, Treatment

Updated on November 18, 2013

Harlequin ichthyosis refers to a skin disorder that can be identified by excess thickening and hardening of the keratin layer in human fetuses. It is the most severe kind of congenital ichthyosis.

The skin of patients may elicit mostly reddish, diamond-shaped scales that affect large parts of the body. Varied organs such as the eyes, penis and ears may also be constricted and abnormally thin.The movements of affected children tend to be limited due to the presence of scaly skin. The typical areas with skin folds may have broken and cracked skin. This poses an increased risk to persistent attack by bacteria and other microorganisms, which may then result in development of severe infections.

The scaly skin usually forms due to extreme hyperkeratosis. Harlequin ichthyosis has been found to be associated with errors in the gene responsible for the ABCA12 protein.

The characteristic facial features and the presence of diamond-shaped scales all across the body help in easy identification and diagnosis of harlequin ichthyosis. Morphologic investigation of amniotic fluid collected via amniocentesis, or a biopsy of the fetal skin can help detect the presence of harlequin ichthyosis when the baby is in the womb.Currently, most doctors use ultrasound to diagnose the occurrence of common features of harlequin ichthyosis, which can later be confirmed with the help of 3D ultrasound.

Symptoms of harlequin ichthyosis

Infants affected by harlequin ichthyosis may experience bleeding during or after delivery. The skin condition tends to affect different body systems, especially the face, limbs, skin, and respiration. Some of the common signs and symptoms of harlequin ichthyosis are listed below.

The face and skull: Severe deformities of the face and cranium may be evident.

  • Extremely poor growth or partial development of the ear and/or nose may be observed. These organs may also fail to form at all.

  • A severe case of inverted eyelids or ectropion may occur. This can pose elevated risk to ocular infections as well as infections of the surrounding regions.

  • A unique condition called eclabium, wherein the lips are fixed into a wide frown, may also be seen in individuals affected by harlequin ichthyosis. Eclabium generally arises due to excess extension of the lips by dry skin.

The arms, fingers, and feet: The fingers and limbs may be abnormally small. The occurrence of deformities may prevent patients from bending their feet, arms or fingers.

  • Patients may be polydactyl, i.e. the presence of greater than normal number of toes or fingers.

  • Another anomalous feature experienced by harlequin ichthyosis patients includes hypoplasia of the fingers which can cause problems in gripping things.

Respiration and skin problems: The varied skin anomalies restrict the full expansion of the chest during inhalation. It can result in varied hazards like hypoventilation, which in turn can cause life-threatening respiratory system failure.

  • The armor-like, split skin associated with harlequin ichthyosis also prevents the emission of heat from the body. This poses great risk to temperature changes and eventual progressto hyperthermia.

  • The coated skin does not allow water retention which can increase the vulnerability to dehydration.

Causes of harlequin ichthyosis

  • In humans, harlequin ichthyosis is caused due to presence of abnormalities in the gene associated with the ABCA12 protein.

  • The lipid layer of the skin, which is essential for water retention and protection of skin from environmental elements, is adversely affected by harlequin ichthyosis. The lipid layer is also vital to the prevention of dry and scaly skin.

  • Mutation of the above mentioned gene results in malfunction of the lipid layer, which in turn leads to excess skin dryness and formation of scales.

  • The genetic mutation can affect one newborn out of every 200,000 to 300,000 births.

Treatment of harlequin ichthyosis

In the olden days individuals affected harlequin ichthyosis usually died due to a variety of reasons, including extensive infection or sepsis, respiratory failure due to restrictions in the breathing process, dehydration, etc. The most common cause of a fatality was however systemic infection. Newborns with harlequin ichthyosis hardly lived for a week or more.

The rapid advancement in the field of medicine and technology in the 21st century has however decreased the rate of fatalities. Isotretinoin or Isotrex is one of the primary medications used to control the varied symptoms. It may however be noted that the survival rate of patients using newer medications remains to be determined.

Harlequin Ichthyosis Survivors with pictures

  • The oldest documented survivor of harlequin ichthyosis is Nusrit "Nelly" Shaheen. She lives in the UK and was born in 1984. Four of her siblings were also born with the disease and passed away as infants.

  • Born in 1986, Ryan Gonzalez is the oldest known American survivor

  • Another American patient and survivor of harlequin ichthyosis is Hunter Steinitz. She was born in 1994 and her profile can be viewed on a special documentary by National Geographic named ‘Extraordinary Humans: Skin.’

  • Najmul Hasan Kazim Taqvi, born in India in 2008, is one of the youngest survivors of the skin disorder.

  • Brenna Helen Marie, was born on December 19, 2011 is the youngest Harlequin Ichthyosis child. She had to for multiple surgeries and has fought many skin infections with the aid of superior treatment.

  • Stephanie Turner, based in Arkansas, and diagnosed with Harlequin Ichthyosis, bore a baby boy on May 25,2013. Though her pregnancy was termed as high risk, this 20 year old woman carried on with the pregnancy, which turned out to be smooth, and the baby was born without any health issue.


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