Harlequin ichthyosis is a rare and serious genetic disease characterized by thickening of the keratin layer that forms the baby’s skin, so the skin is thick and tends to pull and stretch, causing deformities in the face and throughout the body and causing complications in the baby, such as shortness of breath, feeding and taking certain medications.
Geralmente, os bebês que nascem com ictiose arlequim morrem poucas semanas após o nascimento ou sobrevivem no máximo até os 3 anos de idade, isso porque como a pele apresenta diversas fissuras, a função protetora da pele é prejudicada, havendo maior chance de infecções recorrentes.
- The causes of harlequin ichthyosis are not yet fully understood.
- But blood parents are more likely to have such a baby.
- There is no cure for this disease.
- But there are treatment options that help relieve symptoms and increase a baby’s life expectancy.
The newborn with harlequin ichthyosis has the skin covered by a very thick, smooth and opaque plaque that can compromise various functions.The main characteristics of this disease are:
In addition, the thick layer of skin can cover the ears, not being visible, in addition to compromising the fingers and toes and the nasal pyramid. Thickened skin also makes it difficult for the baby to move, keeping him in a semi-flexed motion.
Because the protective function of the skin is compromised, it is recommended that this baby be referred to the neonatal intensive care unit (UCI Neo) for essential care to avoid complications. Understand how neonatal ICU works.
Diagnosis of harlequin ichthyosis can be made in the prenatal period by means of scans such as ultrasound, which always shows the open mouth, restriction of breathing movements, nasal disturbance, always fixed or scratched hands, or by amniotic fluid analysis or biopsy. can be achieved at 21 to 23 weeks gestation.
In addition, genetic counseling may be done to check the chances of the baby being born with this disease if parents or loved ones have the gene responsible for the disease. Genetic counseling is important for parents and family to understand the disease and care they should take.
Treatment of harlequin ichthyosis aims to reduce newborn discomfort, relieve symptoms, prevent infections and increase a baby’s life expectancy. Treatment should be done in the hospital, as cracks and peeling of the skin promote bacterial infection, which makes the disease even more severe and complicated.
Treatment includes doses of synthetic vitamin A twice daily to ensure cell renewal, reducing skin wounds and allowing for greater mobility. Body temperature should be monitored and skin hydrated. Water and glycerin or emollients are used alone or in combination with formulations containing urea or ammonia lactate, which should be applied 3 times a day. Understand how ichthyosis should be treated.
Harlequin ichthyosis has no cure, but the baby may receive treatment immediately after birth in the neonatal intensive care unit aimed at reducing their discomfort.
The goal of treatment is to control temperature and moisturize the skin. Doses of synthetic vitamin A are given and, in some cases, skin autograft surgeries may be performed. Despite the difficulty, after about 10 days, some babies have managed to be breastfed, but few babies reach the year of life.