- Causes of lamellar ichthyosis
- Main symptoms
- How the diagnosis is made
- Treatment for lamellar ichthyosis
Lamellar ichthyosis is a rare genetic disease characterized by changes in the formation of the skin due to a mutation, which increases the risk of infections and dehydration, in addition to there may also be eye changes, mental retardation and decreased sweat production.
Because it is related to a mutation, lamellar ichthyosis has no cure and, therefore, the treatment is done with the aim of relieving symptoms and promoting the person's quality of life, requiring the use of creams recommended by the dermatologist for avoid stiffening the skin and keep it hydrated.
Causes of lamellar ichthyosis
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 carry this gene for the child to have the mutation manifested and the disease to occur.
Main symptoms
Lamellar ichthyosis is the most serious type of ichthyosis and is characterized by accelerated peeling of the skin, leading to the appearance of several fissures in the skin that can be quite painful, increasing the risk of infections and severe dehydration and reducing mobility, since that there may also be stiffness of the skin.
In addition to peeling, it is possible for people with lamellar ichthyosis to experience alopecia, which is the loss of hair and hair on different parts of the body, which can result in heat intolerance. Other symptoms that can be identified are:
- Eye changes; Eyelid inversion, scientifically known as ectropion; Glued ears; Decreased sweat production, called hypohidrosis; Microdactyly, in which smaller or lesser fingers are formed; Deformed nails and fingers; Short stature; Mental retardation; Decreased hearing capacity due to the accumulation of skin scales in the ear canal; Increased skin thickness on the hands and feet.
People with lamellar ichthyosis have a normal life expectancy, but it is important that steps are taken to reduce the risk of infections. In addition, it is important that they are accompanied by psychologists, since due to deformations and excessive scaling they may suffer prejudice.
How the diagnosis is made
The diagnosis of lamellar ichthyosis is usually made at birth, and it is possible to verify that the baby is born with a yellow layer of skin and cracks. However, to confirm the diagnosis, blood, molecular and immunohistochemical tests are required, such as the evaluation of the activity of the enzyme TGase 1, which acts in the process of formation of transglutaminase 1, with a decrease in the activity of this enzyme in the lamellar ichthyosis.
In addition, molecular tests can be performed in order to identify the TGM1 gene mutation, however this test is expensive and is not available by the Unified Health System (SUS).
It is also possible to carry out the diagnosis even during pregnancy by analyzing the DNA using amniocentesis, which is an exam in which a sample of the amniotic fluid is taken from the inside of the uterus, which contains baby cells and which can be evaluated laboratory for detect any genetic change. However, this type of examination is only recommended when there are cases of lamellar ichthyosis in the family, especially in the case of relationships between relatives, as there is a greater chance of parents carrying the mutation and, thus, passing it on to their child.
Treatment for lamellar ichthyosis
The treatment for lamellar ichthyosis aims to relieve symptoms and promote the person's quality of life, since the disease has no cure. Thus, it is important that the treatment is carried out according to the dermatologist or general practitioner guidance, with hydration and use of some medications responsible for the control of cell differentiation and infection control being recommended, since as the skin, which is the first barrier of protection of the organism, is damaged in lamellar ichthyosis.
In addition, the use of some creams may be recommended to keep the skin hydrated, to remove the dry layers of the skin and to prevent its tightening. Understand how ichthyosis treatment should be done.
