What Is the Survival Rate of Harlequin Ichthyosis?

Medically Reviewed on 11/17/2021
Harlequin Ichthyosis
Global survival rates of harlequin ichthyosis are 50 percent; however, various studies have reported survival rates between 44 to 81 percent.

The global survival rate of harlequin sepsis is about 50 percent. Various studies have reported different survival rates that range from 44 to about 81 percent.

With advances in treatment strategies, many babies born with harlequin ichthyosis survive through their teens and even 20s.

  • Early diagnosis and initiation of appropriate treatment play a crucial role in survival. 
  • The disease has a significant psychological and social impact on the affected individual and their caregivers.
  • The most common causes of death in newborns affected with harlequin ichthyosis are respiratory failure, severe infections (sepsis), or a combination of both.

Patient support organizations such as the Foundation for Ichthyosis and Related Skin Types (FIRST) are available in many countries. These organizations play a crucial role in creating awareness and providing knowledge and emotional support to the affected families.

What is harlequin ichthyosis?

Harlequin ichthyosis (also called a harlequin fetus, ichthyosis fetalis, or harlequin baby syndrome) is a rare genetic condition that affects the skin.

  • It causes the newborn’s skin to appear like thick plates that may crack and split apart.
  • The severe thickening of the skin causes distorted facial features with diamond-shaped patterns of thickened skin.
  • The abnormal skin texture leads to various problems including breathing and eating difficulties.

The thickened and taut skin causes the eyelids and lips to turn inside out, called ectropion and eclabium, respectively.

  • The baby’s ears may be absent or poorly developed.
  • The arms, legs, fingers, and toes may be poorly developed with limited mobility.
  • The baby has its body covered with deep skin cracks causing an increased risk of dehydration and infections and inability to regulate body temperature.

What causes harlequin ichthyosis?

Harlequin ichthyosis is caused by abnormalities (mutations) in the ABCA12 gene.

  • This gene is necessary for making a protein (called ABCA 12) required for fetal skin development.
  • The protein codes play a crucial role in fat (lipid) transport to the outermost skin layer (the epidermis).
  • An absent or defective ABCA 12 protein prohibits normal skin development leading to thickened and scaly skin with poor elasticity.

Harlequin ichthyosis is inherited as an autosomal recessive condition. This means that both the copies of the mutated ABCA 12 gene must be present in the individual for them to be affected. If an individual carries just one ABCA12 gene, they are called carriers.

A carrier does not exhibit any signs and symptoms of harlequin ichthyosis, but they can pass on the defective gene to their children. A child born to parents both of whom are carriers of harlequin ichthyosis has a 25 percent chance of suffering from the disease.

What is the treatment of ichthyosis?

Newborns born with harlequin ichthyosis generally require intensive care unit care.

A multidisciplinary team is often required that comprises various specialists, such as:

  • Neonatologist
  • Medical geneticist
  • Dermatologist (skin specialist)
  • Ophthalmologist (eye specialist)
  • Ear-nose-throat specialist
  • Plastic surgeon
  • Dietician
  • Social worker
  • Occupational therapist
  • Physical therapist

Treatment may include:

  • Preventing and treating skin infections
  • Maintaining airways
  • Providing feeding support
  • Maintaining body temperature
  • Pain management (may require opioids)
  • Eye lubricants and emollients
  • Skin lubricants
  • Topical retinoids such as tazarotene
  • Oral retinoids such as acitretin and isotretinoin
  • Intravenous fluids
  • Surgical care

Long-term follow-up is generally required to monitor the patient’s condition and for the early treatment of any complications.

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Medically Reviewed on 11/17/2021
Image Source: iStock Images