What are the symptoms of Harlequin ichthyosis?

By  ,  Onlymyhealth editorial team
Jul 01, 2011

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  • Harlequin ichthyosis is a rare genetic skin disease.
  • Those born with harlequin ichthyosis have severe cranial and facial deformities.
  • There are hard, thick skin on most of the body.
  • There can be excessive loss of fluids (dehydration)

Harlequin ichthyosis is a rare genetic skin disease. The condition begins with a gene responsible for lipid transportation. The gene mutation causes hardening of a protein called keratin in the outer layer of the skin. That's where the large, pronounced scales come in. The scaly keratin greatly limits the child's movement. Because of resultant cracked skin in locations where normal skin would fold.


harlequin ichthyosis symptoms



Those born with this condition have severe cranial and facial deformities. Hard, thick skin that covers the most of the body is the characteristic of the inherited skin condition. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities in the condition affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs. Also, the patients are likely to experience breathing difficulties and respiratory failure.

It is difficult for patients to control water loss, regulate their body temperature and fight infections in the condition. There can be excessive loss of fluids (dehydration) and life-threatening infections may develop in the first few weeks of life.



A study in the Archives of Dermatology described the condition as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the prognosis of harlequin ichthyosis is improving. There have been improvements in care over the years. Most notably retinoids can help the patients.

The condition is rare and affects infants in several different ways. With intensive medical support and improved treatment, people with this disorder have a better chance of living into adolescence.



(Image source:Gettyimages)


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  • Harlequin Ichthyosis24 Mar 2012

    I wanted to ask, how will you be able to diagnose if a baby really has this disease condition?

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