About doc 6 (harlequin type)

What is doc 6 (harlequin type)?

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. Harlequin ichthyosis is inherited as an autosomal recessive trait.

What are the symptoms for doc 6 (harlequin type)?

Tearing of eyes symptom was found in the doc 6 (harlequin type) condition

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

In newborns

Babies with Harlequin ichthyosis are usually born prematurely. That means they may have a higher risk of other complications as well.

The sign people usually first notice is hard, thick scales all over the body, including the face. The skin is pulled tightly, causing the scales to crack and split open.

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

  • eyelids turning inside out
  • eyes not closing
  • lips pulled tight, leaving the mouth open and making nursing difficult
  • ears fused to the head
  • small, swollen hands and feet
  • limited mobility in arms and legs
  • nursing difficulties
  • breathing problems due to tight chest skin
  • infections in deep skin cracks
  • dehydration
  • low body temperature
  • high sodium in the blood, known as hypernatremia

In older children and adults

Children with Harlequin ichthyosis may experience a delay in physical development. But their mental development is usually on track with other children their age.

A child born with Harlequin ichthyosis will likely have red, Scaly skin throughout their life.

They may also have:

  • sparse or thin hair as a result of scales on the scalp
  • 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
  • recurring skin infections
  • overheating due to scales that interfere with sweating

What are the causes for doc 6 (harlequin type)?

Harlequin ichthyosis runs in families. The disorder is due to a problem in the gene ABCA12. ABCA12 is responsible for maintaining the skin’s protective barrier against external factors such as microorganisms. Genetic changes (mutations) disrupt this barrier and lead to the characteristic signs of the disorder.

If your baby has harlequin ichthyosis, it is more likely because you and your spouse/partner are carriers of the gene, or one or both of you is/are affected with the signs and symptoms of the disease. Carriers are people who carry the gene but do not show any symptoms.

A higher incidence of harlequin ichthyosis may be encountered in cultures where parental consanguinity is common.

What are the treatments for doc 6 (harlequin type)?

With improved neonatal facilities, infants born today have a better chance of living longer, healthier lives.

But early, intensive treatment is vital.

Initial treatment

A newborn with Harlequin ichthyosis requires neonatal intensive care, which may include spending time in a heated incubator with high humidity.

Tube feeding can help prevent malnutrition and dehydration. Special lubrication and protection can help keep eyes healthy.

Other initial treatments might include:

  • applying retinoids to help shed hard, scaly skin
  • applying topical antibiotics to prevent infection
  • covering the skin in bandages to prevent infection
  • placing a tube in the airway to help with breathing
  • using lubricating eye drops or protective devices on the eyes


There’s no cure for Harlequin ichthyosis, so management becomes a crucial part of the equation after initial treatment. And it’s all about the skin.

Skin protects the body from bacteria, viruses, and other harmful elements in the environment. It also helps to regulate body temperature and fluid loss.

That’s why keeping your skin clean, moist, and supple is so important for children and adults with Harlequin ichthyosis. Dry, tight skin can crack and become vulnerable to infection.

For maximized benefit, apply ointments and moisturizers right after a bath or shower, while the skin is still moist.

Look for products containing rich moisturizers, such as:

  • alpha-hydroxy acids (AHAs)
  • ceramides
  • cholesterol
  • lanolin
  • petrolatum

Some people in the ichthyosis community recommend AmLactin, which contains the AHA lactic acid. Others recommend adding a few ounces of glycerin to any lotion to help it keep the skin moist for longer periods of time. You can find pure glycerin in some pharmacies.

Oral retinoids help with thick skin. You should also protect the skin from sunburn and try to avoid extreme temperatures that can irritate the skin.

If you have a school-aged child, make sure to let the school nurse know about their condition and any treatment they may need throughout the school day.

What are the risk factors for doc 6 (harlequin type)?

There are no specific risks for doc 6. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Is there a cure/medications for doc 6 (harlequin type)?

Harlequin syndrome is a rare disorder of the autonomic nervous system. The blockage results in hemifacial discoloration, sharply demarcated at the midline. It is a self resolutive disease.

Treatment/ management

  • Though Harlequin syndrome may not need treatment, in cases where the individual may feel socially embarrassed, contralateral sympathectomy may be considered.
  • In this treatment, the nerve bundles that cause the flushing in the face are interrupted.
  • Since Harlequin syndrome and its symptoms are not harmful, contralateral sympathectomy is only recommended if a person is very uncomfortable with the flushing and sweating associated with the syndrome
  • Psychological distress and anxiety are the pressing consequences of the triggers. Hence, addressing the anxiety is the priority of the treatment. Reassurance and counseling help face the episodes.
  • The anesthesia blocks the thoracic sympathetic nerves that cause the harlequin face. However, the effect of anesthesia fades off over time; head up position and lowering or stopping the infusion of anesthetic agent fastens the regression of anesthesia and hence, the face discoloration.
  • Complete transection of T2-T4 nerve fibers, which occurs during neck surgeries, may lead to a permanent harlequin face. Stellate ganglion blockade on the contralateral side is the procedure to block hyperemia and flushing over the intact side. It might need to be repeated, or a botulinum injection can be given.

Hemifacial discoloration cluster headaches,Forehead sweating and nasal discharges,Tearing of eyes,Drooping of the upper eyelids and pupiliary constriction,Temperature diffences over the two halves,Psychological distress
Hemifacial discoloration sharply marked by midline
Botulinum toxin

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