Harlequin Ichthyosis LMB

What Causes Harlequin Ichthyosis?

How common is it?

What are the Signs & Symptoms?

• Autosomal recessive congenital ichthyosis (ARCI) – harlequin ichthyosis type
• Harlequin baby syndrome
• Harlequin fetus

• Eyelids that are turned inside out so that the eyes can’t close
• Lips that are pulled tight, so the mouth stays open; this makes it difficult for the baby to nurse or take a bottle
• A flat nose and ears that are fused to the head
• Small, swollen hands and feet
• Arms and legs with limited mobility
• Dry skin that easily becomes infected
• A lower-than-normal body temperature

• Eyelids that are turned inside out so that the eyes can’t close
• Lips that are pulled tight, so the mouth stays open; this makes it difficult for the baby to nurse or take a bottle
• A flat nose and ears that are fused to the head
• Small, swollen hands and feet
• Arms and legs with limited mobility
• Dry skin that easily becomes infected
• A lower-than-normal body temperature

Children with HI will likely have red, scaly skin throughout their lives. They may also have:

• Thin or fragile hair due to scales on the scalp
• Reduced hearing caused by scale buildup in the ears
• Thickened, discolored, or oddly shaped fingernails and toenails
• Difficulty moving hands, arms, feet and legs because of stiff, inflexible, sometimes painful joints
• Frequent skin infections
• Inability to sweat

What to Expect

• Physical growth and development may be delayed in children with HI. Mental development, however, should be normal.
• Every person’s experience with HI is unique. Many people may offer advice about skin care products and coping strategies that they have found helpful. Keep in mind that what has worked for someone else may or may not work for you/your child. You may need to try a variety of skin care products and approaches before finding tone that produces the best results for you/your child.
• It’s important to find a dermatologist that knows how to treat HI, especially as it is so rare.
• Developing a daily routine to help control skin scales, itching, and skin cracking is important.
• Thick fingers and stiff knuckles can make it difficult for people with HI to grip things with their hands, while stiff knees and ankles can limit walking.

Treatments & Self-Care

The main treatments for HI are

• Bathing or showering frequently using a mild, soap-free cleanser to soften the skin and remove layers of thickened skin
• Rubbing the skin lightly with a loofah, rough-textured sponge, or pumice stone to help remove thickened skin
• Applying moisturizers to the skin after bathing or showering and throughout the day to reduce skin dryness; be careful not to use perfumed lotions
• In the neonatal and infantile period, drugs called retinoids can be life-saving (see below)

Things to Keep in Mind

• HI is a chronic condition that needs lifelong, daily, meticulous care.
• HI is not contagious. No one can catch it by touching or being close to you or to your child with EI.
• Both cold and hot weather present challenges for people with HI.
  • In cold weather, the air is drier and the skin is likely to dry out and crack more easily. You may need to moisturize your skin even more frequently or use stronger moisturizing products.
  • In hot weather your body will overheat very quickly because it can’t expel heat by sweating. To minimize overheating when outdoors, wear sun-protective clothing, apply sunscreen, and seek shade.

• People (some well meaning, others less so) may stare at you, or at your child with EI, and ask questions like “What’s wrong with your skin/your child?” or “Does it hurt?”.
  • Other children may tease or bully your child with HI because of their appearance.
  • Explaining to people that you, or your child who has HI, were born with the condition may help them understand that you’re not sick and that you live with the condition every day.
  • When you have HI, your skin may look different from other people’s, but you can still do most things that other people do.
  • You are not responsible for other people’s reactions to your or your child’s appearance. Your skin condition does not define who you are.

• Parents of a child with EI may feel a need to be very protective of them.
  • Do your best to treat your child with EI in the same way as unaffected children in the family, while allowing for the fact that your child with EI needs a special skin care regimen and must take certain precautions (e.g., in hot or cold weather).
  • For example, hold them to similar expectations and encourage them to follow their dreams and ambitions just as you do your other children.
  • Reinforce in your child with HI that their skin condition does not define who they are or what they can achieve in their lives. 

Questions to Ask

• Dahl AA. Ichthyosis Treatment & Management. 2018 Aug 28. https://emedicine.medscape.com/article/1198130- treatment#d2 
• FIRST. Harlequin Ichthyosis: A Patient’s Perspective. https://www.firstskinfoundation.org/types-of-ichthyosis/harlequin-ichthyosis
• Healthline.com. A Parent’s Guide to Harlequin Ichthyosis. 2018 Dec 3. https://www.healthline.com/health/harlequin-ichthyosis
• Medline Plus Genetics. Harlequin ichthyosis. https://medlineplus.gov/genetics/condition/harlequin-ichthyosis/ 
• National Organization for Rare Disorders. Harlequin Ichthyosis. https://rarediseases.org/rare-diseases/ichthyosis-harlequin-type/

• To learn more about ichthyosis research or find out how you can partner with FIRST members on a research study, visit the current clinical trials and research studies section on FIRST’s website.  »
• Clinicians seeking to confirm a diagnosis should visit FIRST’s TeleIchthyosis site to submit a case to experts in ichthyosis. »
• Learn more about FIRST’s Support Services – connecting affected individuals and families with each other. Or call the FIRST office at 800-545-3286. 
• Visit EI Cure Project for additional information on epidermolytic ichthyosis
• Visit EI Cure Project for additional information on the care of newborns and infants with epidermolytic ichthyosis