SYMPTOMS

The symptoms of Harlequin ichthyosis change with age but tend to be more severe with infants.

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In Infants:

Most babies born with the disorder tend to be born prematurely, which means that they have a risk of other complications such as heart and lung problems.

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The first sign that the people around them notice include hard, thick scales all over the body. Since the skin is extremely tight, this causes the scales to crack and split open.

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This hardened skin can cause a number of serious issues, such as:

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• High sodium in the blood (hypernatremia)

• Eyelids turning inside out

• Eyelids not closing

• Ears fused to the head

• Small, swollen hands and feet

• Lips pulled tight, leaving the mouth open and leading to nursing difficulties

• Limited mobility in arms and legs

• Breathing problems due to tight skin

• Infections from the deep skin cracks

• Dehydration due to dry skin

• Low body temperature

• Deformed limbs

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In Older Children/Adults:

Some children with the disorder may experience a delay in physical development, but all children with Harlequin ichthyosis will have the same speed in terms of mental development as other children their age. They will also most likely have red, scaly skin throughout their life.

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Some other symptoms that occur in older children and adults include:

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• Sparse or thin hair as a result of scales on the scalp, preventing hair growth

• Unusual facial features due to stretched skin

• Reduced hearing from a buildup of scales in the ears

• Problems with finger movement due to tight skin

• Thick fingernails

• Skin infections that constantly occur

• Overheating from the scales that interfere with sweating

• Having a short stature