Table of contents:
Lamellar ichthyosis is a rare genetic disease that manifests itself in the newborn at birth, characterized by symptoms such as peeling of the skin, formation of dark plaques, dry eye or deformation of the nails and fingers, for example, being caused by changes in genes responsible for skin formation.
Lamellar ichthyosis can increase the risk of infections as the skin's protective barrier is impaired, and it can cause excessive fluid loss and result in severe dehydration.
The treatment of lamellar ichthyosis is performed by a pediatrician, general practitioner or dermatologist, with the aim of relieving symptoms and promoting quality of life. retinoid drugs, in the most severe cases.
Symptoms of lamellar ichthyosis
The main symptoms of lamellar ichthyosis are:
- Skin peeling;
- White and thin, or dark and thick patches on the skin, covering most of the body;
- Loss of hair and hair in different parts of the body;
- Increased thickness of skin on hands and feet;
- Heat intolerance;
- Decreased sweat production, called hypohidrosis;
- Eye changes such as chronic dry eyes;
- Inversion of the eyelid, scientifically known as ectropion;
- Small ears or close to the skin;
- Deformation of nails and fingers;
- Decreased hearing capacity due to accumulation of skin scales in the ear canal.
Furthermore, lamellar ichthyosis can cause skin fissures or cracks which can be quite painful, increase the risk of infections and severe dehydration and reduced mobility, as the skin can also become stiff.
These symptoms are usually present from birth, and pediatrician follow-up should be followed, so that the most appropriate treatment is carried out in order to reduce the risk of infections and improve quality of life.
How the diagnosis is made
The diagnosis of lamellar ichthyosis is made by the pediatrician at birth, by evaluating the characteristics of the baby's skin, which usually presents a layer of skin, called collodion membrane, with a yellowish and shiny appearance, which usually disappears about 10 to 14 days after birth, the skin starts to look red and scaly.
To confirm the diagnosis of lamellar ichthyosis, the doctor may order blood, molecular and immunohistochemical tests, with the aim of identifying the mutation of the TGM1 gene, which is related to changes in the activity of the transglutaminase 1 enzyme, responsible for the formation of the protective barrier of the skin.
In addition, it is also possible to carry out the diagnosis during pregnancy by analyzing the DNA through amniocentesis. However, this type of test is only recommended when there are cases of lamellar ichthyosis in the family, especially in the case of a relationship between relatives, as there is a greater chance that the parents are carriers of the mutation and, thus, pass it on to the child. Learn how amniocentesis is performed.
Lamellar ichthyosis can be caused by mutations in several genes, however the mutation in the TGM1 gene is the most related to the occurrence of the disease. Under normal conditions, this gene promotes the formation in adequate amounts of the protein transglutaminase 1, which is responsible for the formation of the skin. However, due to the mutation in this gene, the amount of transglutaminase 1 is impaired, and there may be little or no production of this protein, which results in skin changes.
As this disease is autosomal recessive, for the person to have the disease, both parents must be carriers of this gene for the child to have the mutation manifested and the disease to occur.
How the treatment is done
Treatment of lamellar ichthyosis should be performed under the guidance of a pediatrician, dermatologist or general practitioner, with the aim of relieving symptoms and promoting quality of life.
Therefore, some treatment options that may be recommended by the doctor are:
- Moisturizing creams for the skin, containing Vaseline, urea or alpha hydroxy acids, applied right after bathing, as they help to repair the protective barrier of the hydrated skin, remove the dry layers of the skin and prevent it from tightening;
- Retinoid Remedies, in the form of creams or tablets, as they help accelerate skin renewal and increase sweat production, which allows for better heat tolerance;
- Artificial tears, as they help hydrate the eyes in case of chronic eye dryness.
In addition, in more severe cases, the doctor may recommend the use of antibiotic creams or corticosteroids to reduce the risk of skin infections or prevent the appearance of scales. See more about treating ichthyosis.