Lamellar ichthyosis is a rare genetic disease characterized by changes in skin formation due to a mutation, increasing the risk of infection and dehydration, as well as eye changes, mental retardation and decreased sweat production.
Because it is linked to a mutation, laminar ichthyosis has no cure and, therefore, treatment is carried out with the aim of relieving symptoms and promoting the quality of life of the person, requiring the use of creams recommended by the dermatologist to avoid hardening the skin and maintaining hydrate.
- Laminar ichthyosis can be caused by mutations in several genes.
- But the TGM1 gene mutation is more related to the onset of the disease.
- Under normal conditions.
- This gene promotes the formation of adequate amounts of transglutaminase protein 1.
- Responsible for skin formation.
- However.
- Due to the mutation of this gene.
- The amount of transglutaminase 1 is altered and there may be little or no production of this protein.
- Resulting in changes in the skin.
Because this disease is autosomal recessive, for the person to be affected, both parents need to carry this gene for the mutation to manifest in the child and the disease to occur.
Lamellar ichthyosis is the most severe type of ichthyosis and is characterized by accelerated peeling of the skin, which causes the appearance of various cracks in the skin that can be quite painful, increasing the risk of infections and severe dehydration and reducing mobility, as there may also be skin stiffness.
In addition to flaking, people with lamellar ichthyosis may suffer from alopecia, which is hair loss in different parts of the body, which can lead to heat intolerance. Other symptoms that can be identified include:
People with lamellar ichthyosis have normal life expectancy, but it is important that the necessary measures are taken to reduce the risk of infection. In addition, it is important that they are accompanied by psychologists, because of excessive deformations and flaking, they can be harmed.
Diagnosis of laminar ichthyosis is usually made from birth and the baby can be verified to be born with a layer of yellow skin and cracks. However, to confirm the diagnosis, blood, molecular and immunohistochemical tests are necessary, such as the evaluation of the activity of the enzyme TGasa 1, which acts in the process of formation of transglutaminase 1, with a decrease in the activity of this enzyme in laminar ichthyosis.
In addition, molecular tests may be performed to identify the TGM1 gene mutation, but this test is expensive and not available through the Single Health System (SUS).
Diagnosis can also be achieved even during pregnancy by dna testing using amniocentesis, which is a test that takes a sample of amniotic fluid from inside the uterus, containing baby cells and can be evaluated in the lab for any genetic changes.this type of test is recommended only when there are cases of lamellar ichthyosis in the family, especially in the case of parent relationships, as parents are more likely to carry the mutation and therefore pass it on to their child.
Treatment of lamellar ichthyosis aims to relieve symptoms and promote a person’s quality of life, as the disease is incurable. Therefore, it is important that the treatment is carried out following the advice of the dermatologist or the family doctor, recommending hydration and the use of certain drugs responsible for controlling cell differentiation and infection control, since as the skin, which is the first of the protective barrier organism, is damaged in laminar ichthyosis.
In addition, it may be recommended to use certain creams to keep the skin hydrated, remove dry layers of the skin and avoid tightening it. Understand how ichthyosis should be treated.