What is Harlequin Ichthyosis?
Harlequin Ichthyosis (HI) is a rare and severe genetic disorder that affects the skin of infants. This condition prevents the formation of a protective layer of the skin; instead, it produces a scale-like and hard layer in the skin. There can also be the development of diamond-shaped plates that are separated by deep ridges in the skin. It is also called harlequin baby syndrome or ichthyosis fetalis.
The deep ridges compromise the skin’s essential function of being the body’s first line of defense. The ridges or cracks in the skin allow pathogens to enter the body and cause infection in the skin or the whole system. The ridges also allow heat to escape from the body, possibly contributing to hypothermia in infants and new-borns. The hardening of the skin prevents the constant renewal of the skin by younger and healthier skin cells.
Since the skin’s protective barrier is essentially disrupted, babies who are diagnosed as having this skin disorder are susceptible to infection, at risk of dehydration because of increasing water loss and also impairment of temperature regulation. Hence, they are predisposed to extreme cold and heat.
Picture 1 – Harlequin Ichthyosis (face)
Harlequin Ichthyosis Symptoms & Signs
The main symptoms of Harlequin Ichthyosis are:
- Dryness of Skin. The disorder causes dryness of the skin which will lead to scales and dehydration.
- Scaly Skin. The disorder causes the skin to scale which leads to fissures and causes itching and bleeding.
- Anatomical Changes. The disorder is known to cause anatomical changes like having poorly developed ears and round mouth. There may also be problems in the eyelids of the child as the skin in the area becomes scaly and dry.
Harlequin Ichthyosis in babies
Infants are the ones who normally suffer from this very rare skin disorder.
- Babies with Harlequin Ichthyosis reportedly have thick, hard skin covering most part of their body.
- The skin has diamond (harlequin) shaped, plates which are separated by deep fissures or cracks.
- It can greatly affect the shape of the ears, nose, eyelids, and it can limit the movement of both arms and legs.
- It often stretches the baby’s mouth and makes it open wide.
- Babies born with this skin disorder can also have microcephaly or a small head and a deformed face.
- There is restriction in the movement of the chest which leads to difficulties in breathing and eventually leads to respiratory failure.
Harlequin Ichthyosis Causes
Harlequin Ichthyosis is known to be genetic in nature. The ABC 12 gene, which directs the protein production necessary to have normal skin growth, is mutated, which leads to this severe skin disorder. It is a gene that is responsible for the transportation of lipid. When it mutates, it produces a hardened protein called keratin.
This condition is an autosomal recessive gene, which means that the parents are carriers of the gene and that they both have one of the genes that they passed on to their baby. This is a rare occurrence. Unless both parents have the gene, they cannot pass it on to their children. A child who inherited the gene and doesn’t have the signs or symptoms of the skin disorder will just be a carrier of the gene itself.
Children who inherit this form of skin disorder will usually have normal skin at birth. They eventually develop roughness and scaling during the first few years of their life. Sometimes it appears during the infant years and then disappears during the adult years, but returns later. It is usually associated with diseases like thyroid, chronic renal failure or cancer. However, some children can have the condition even at birth, which increases the incidence of neonatal deaths because of sepsis, dehydration or hypothermia.
Harlequin Ichthyosis Diagnosis
Ultrasound of pregnant mother. To diagnose this type of genetic skin disorder, the mother can undergo ultrasound. It is often done to assess the baby’s condition prior to the baby’s birth; thereby being able to plan for emergency measures at the time of delivery.
Physical examination. Sometimes the diagnosis is by physically examining the skin and characterizing the scales that are associated with this skin disorder.
Skin biopsy. If still in doubt, the physician may perform other relevant tests such as a skin biopsy. This is necessary to rule out other etiologies (origins or causes) of dry, scaly skin.
The physician will also thoroughly assess the patient by asking important questions regarding any personal or genetic history of ichthyosis, the age when the ichthyosis first began, and the presence of other skin disorders.
Harlequin Ichthyosis Treatment
- Airway maintenance – In the case of babies, upon delivery, the baby’s airway and circulation are the number one priorities. The healthcare team must ensure that the baby’s airway, breathing and circulation are stable.
- Protection of conjunctiva – Ophthalmic lubricants are applied in order to protect the conjunctiva (the mucous membrane that lines the inner surface of the eyelid and the exposed surface of the eyeball).
- Skin Protection – It is advisable to bathe the baby twice a day with the use of wet sodium chloride compresses to aid in skin hydration and renewal. Bathing should be followed by the application of bland lubricants to help soften the hard skin. Topical keratolytic medications are not to be prescribed for newborns because they have the potential to be toxic to the system. Nevertheless, Isotretinoin administration can be used with older patients.
- Intravenous access for feeding – Feeding may be through the intravenous route because new-borns and infants may have problems with nutrition. Proper electrolyte monitoring should be done to prevent electrolyte imbalances.
Harlequin Ichthyosis Survivors
For decades in the past, Harlequin Ichthyosis was always fatal because of the interplay of respiratory failure, dehydration and sepsis. However, with the advancement of treatment modalities, there have been a good number of survivors such as Nelly Shaheen, Hunter Steinitz and Ryan Gonzalez. This is due to medical advancements that help people live longer, despite having previously fatal or severe medical conditions.
Harlequin Ichthyosis Pictures
Picture 2 – Harlequin Ichthyosis condition in newborn
Picture 3 – Harlequin baby syndrome in infants
Picture 4 – Ichthyosis fetalis (hand)
Updated and proofreaded by Carlos on 26/08/2012