What Is the Life Expectancy for Harlequin Ichthyosis?

Symptoms of harlequin ichthyosis include: 

• Thick plate-like scales of skin covering the body in infants
  • Skin tightness pulls around the eyes and the mouth, and forces the eyelids and lips to turn inside out, revealing the red inner linings
  • The tightness of the skin may severely restrict the chest and abdomen, making it difficult to breathe and eat 
  • Hands and feet may be small, swollen, and partially flexed
  • Ears are fused to the head by the thick skin which may cause them to appear to be misshapen or missing
• Delayed physical development due to the enormous calorie needs that the skin function demands
• Sparse hair in older children
• Flat nose (depressed nasal bridge)
• Abnormal hearing
• Frequent respiratory infections
• Decreased joint mobility

There is normal mental and intellectual development. 

Harlequin ichthyosis is caused by changes (mutations) in the ABCA12 gene, which is responsible for instructing the body to produce a protein needed for skin cells to develop normally. When this gene is mutated, the skin barrier is disrupted.

Harlequin ichthyosis is inherited in what is called an autosomal recessive pattern, which means a person inherits an abnormal gene from each parent. If the infant receives one normal gene and one abnormal gene, they will be a carrier for the disease, but usually do not show symptoms. 

The diagnosis of harlequin ichthyosis is made at birth based on a child’s physical appearance. 

Some of the features of harlequin ichthyosis may be visible on ultrasound during the second or third trimester. Prenatal testing of fetal DNA for mutations in the ABCA12 gene may be performed. 

Harlequin ichthyosis requires a strict skin care regimen to keep the skin moisturized and supple and to prevent cracking and splitting that can lead to infection. 

The thick, plate-like skin of newborns gradually splits and peels off over several weeks, and antibiotics may be needed to prevent infection. Retinoids may help speed up the shedding of the thick scales, such as: 

• Oral acitretin (Soriatane)
• Oral etretinate (Tegison)
• Oral isotretinoin
• Topical tazarotene (Fabior, Tazorac, Avage)

Most harlequin infants need one-on-one nursing care for the first several weeks of life. 

After the thick plate-like skin peels off, the skin is dry and red, and may be covered in large thin scales. Treatment for skin symptoms includes: 

• Application of skin softening emollients
  • This is especially effective after bathing while the skin is still moist.
• Manual exfoliation performed by rubbing off the thick scale with special exfoliating gloves with a rough surface
• Skin barrier repair formulas containing ceramides or cholesterol, moisturizers with petrolatum or lanolin, and mild keratolytics (products containing alpha-hydroxy acids or urea) to help keep skin moisturized and supple, and prevent cracking and fissuring that can lead to infection
• Removal of damaged tissue (debridement) from the fingers if they are constricted by bands of skin to avoid a loss of circulation

Premature birth is typical, and infants are at risk for complications from early delivery. 

Other complications of harlequin ichthyosis in infants include: 

• Low body temperature and impaired ability to thermoregulate
• Dehydration
• Electrolyte imbalances such as elevated levels of sodium in the blood (hypernatremia)
• Feeding difficulties 
  • Constriction and swelling of the mouth that can interfere with the suck response 
  • May necessitate tube feeding
• Eyelids may be forced open by the tightness of the skin
• Systemic bacterial infections