Harlequin ichthyosis is a rare skin disorder that is typified by a thickening of the keratin layer of the skin. The skin contains huge, diamond-shaped scales, which have a red color. The eyes, ears, limbs and penis may be abnormal. The scaly keratin restricts the baby’s movement. Because the skin cracks at places where the normal skin would fold, there is easy access for microbes, resulting in a very huge risk of fatal infection.
The baby will have severe facial as well as cranial deformities. Ears and nose could be anomalously developed or totally absent. The eyelids are everted and thus the area around them is highly vulnerable to infection. There is a deformity in the limbs of the child, such that they cannot bend them properly, and may be below the normal size. The child may also have more than the normal number of fingers and / or toes.
They are highly vulnerable to changes in temperature because of their cracked skin, which does not allow normal loss of heat. Respiration is also limited by the skin, and this hampers the chest from expanding and taking in adequate amount of air.
What Causes Harlequin Ichthyosis?
The cause is known to be a mutation in the ABCA12 gene. This gene encodes a transporter protein that is involved in the conveyance of fats across the cell membranes. Parents may not have any clinical features or manifestations of the condition; however, they may carry a copy of the mutated gene.
Treatment And Management Of Harlequin Ichthyosis
In the past, Harlequin Ichthyosis was always fatal, either due to infections, dehydration, sepsis, deficient respiration or other related causes.
However, there have been a host of improvements in medications and drugs as well as medical care, most particularly, retinoids, such as the drug Isotretinoin, which proffers immense help in the management of the skin symptoms of Harlequin Ichthyosis.
Health care providers and experts have stated that the disorder is severe and chronic and is not habitually fatal. With advanced and better neonatal care and possibly the timely administration of oral retinoids, the number of survivors is increasing.
- Babies who are born with the condition require instant, individual, nursing care in a neonatal intensive care unit. These babies are unable to sustain a safe body temperature and are more prone to dehydration, fluid losses, and life threatening infections in their early weeks of life. Thus, prompt, timely and effective treatment and therapies must be started for the successful management of the case.
- Intravenous tubes are necessary in order to provide fluids and nutrition.
- It is necessary to keep an eye on the electrolytes and sodium.
- Lubricating and protecting the eyes is vital.
- The baby needs to be kept in a high humidity incubator to help sustain body temperature and make sure skin cracks do not appear.
- Anti-biotics to ward off infections.
- Retinoids to expedite shedding of the skin scales.
With optimal treatment, the thick plate-like skin gradually falls off. Harlequin ichthyosis needs an ongoing, every day skin care regimen to keep the skin well moisturized and to avert dryness, cracking and scaling. You need to confer with your dermatologist regarding your specific skin care routine and she will advise appropriate creams.