- Symptoms of Harlequin Ichthyosis
- How the diagnosis is made
- Harlequin Ichthyosis Treatment
- Is there a cure?
Harlequin ichthyosis is a rare and serious genetic disease characterized by the thickening of the keratin layer that forms the baby's skin, so that the skin is thick and has a tendency to pull and stretch, causing deformations on the face and throughout the body and bringing complications for the baby, such as breathing difficulties, feeding and taking some medications.
Generally, babies born with harlequin ichthyosis die a few weeks after birth or survive to the age of 3 at the most, because as the skin has several cracks, the protective function of the skin is impaired, with a greater chance of recurrent infections.
The causes of harlequin ichthyosis are not yet fully understood, but consanguineous parents are more likely to have a baby like this. This disease has no cure, but there are treatment options that help to relieve symptoms and increase the life expectancy of the baby.
Symptoms of Harlequin Ichthyosis
The newborn with harlequin ichthyosis presents the skin covered by a very thick, smooth and opaque plaque that can compromise several functions. The main characteristics of this disease are:
- Dry and scaly skin; Difficulties in feeding and breathing; Cracks and wounds on the skin, which favors the occurrence of various infections; Deformations of the organs of the face, such as eyes, nose, mouth and ears; Malfunction of the thyroid; Extreme dehydration and electrolyte disturbances; skin peeling throughout the body.
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. The thickened skin also makes it difficult for the baby to move, staying in a semi-flexed movement.
Because the protective function of the skin is impaired, it is recommended that this baby be referred to the Neonatal Intensive Care Unit (ICU Neo) so that he / she can have the essential care in order to avoid complications. Understand how the neonatal ICU works.
How the diagnosis is made
The diagnosis of Harlequin ichthyosis can be made in the prenatal period through exams such as ultrasound, which always shows an open mouth, restriction of respiratory movements, nasal alteration, always fixed or clawed hands, or through the analysis of amniotic fluid or biopsy. fetal skin that can be done at 21 or 23 weeks of gestation.
In addition, genetic counseling can be done in order to verify the chance of the baby being born with this disease if the parents or relatives present the gene responsible for the disease. Genetic counseling is important for parents and family to understand the disease and the care they should take.
Harlequin Ichthyosis Treatment
The treatment for harlequin ichthyosis aims to reduce the newborn's discomfort, relieve symptoms, prevent infections and increase the baby's life expectancy. The treatment must be done in hospital, since the fissures and peeling of the skin favors the infection by bacteria, which makes the disease even more serious and complicated.
The treatment includes doses of synthetic vitamin A twice a day, to provide cell renewal, thus reducing the wounds present on the skin and allowing greater mobility. Body temperature must be kept under control and the skin hydrated. To hydrate the skin, water and glycerin or emollients isolated or associated with formulations containing urea or ammonium lactate are used, which must be applied 3 times a day. Understand how ichthyosis treatment should be done.
Is there a cure?
Harlequin ichthyosis has no cure but the baby can receive treatment right after birth in the neonatal ICU which is aimed at reducing his discomfort.
The goal of treatment is to control the temperature and hydrate the skin. Doses of synthetic vitamin A are administered and, in some cases, skin autograft surgeries may be performed. Despite the difficulty, after about 10 days some babies managed to be breastfed, however few babies reach 1 year of age.
