Lamellar ichthyosis is a rare hereditary skin disease of an autosomal recessive type, characterized by pronounced hyperkeratosis and a violation of the processes of keratinization of the epidermis. With this dermatosis, massive peeling of the skin in large plates resembling fish scales is observed, which determined the name of the pathology. The disease manifests itself immediately after birth, when the newborn is covered with a kind of colloidal film, which subsequently transforms into pronounced lamellar desquamation. The pathogenesis of the disease is associated with a violation of the barrier function of the skin and keratinocyte processes, which leads to a significant loss of fluid through the skin and increased sensitivity to infectious agents.
History of the disease and interesting historical facts
The first descriptions of lamellar ichthyosis appeared in the 19th century, when European dermatologists began to systematize rare hereditary skin diseases. In 1865, the German doctor Wilhelm Busch described in detail the clinical picture of the disease in several generations of one family, noting its hereditary nature. Interestingly, at the beginning of the 20th century, there was confusion between the various forms of ichthyosis, until in 1924, the American dermatologist Howard Fox conducted the first detailed genetic study of families with lamellar ichthyosis. “An important stage in the study of the disease was the discovery of mutations in the TGM1 gene in 1995, which allowed us to better understand the molecular mechanisms of the pathology,” modern researchers note.
Epidemiology
According to current epidemiological data, the incidence of lamellar ichthyosis is approximately 1 case per 200,000-300,000 newborns. However, statistics may vary in different populations:
- In Northern European countries, the figure reaches 1:100,000
- In Asian populations, a lower frequency is recorded - about 1:500,000
- High rates of consanguineous marriages in some regions increase the risk of developing the disease
It is important to note that mortality among newborns with severe forms of the disease can reach 50% in the first weeks of life.
Genetic predisposition to this disease
Lamellar ichthyosis is caused by mutations in several genes involved in the keratinization process:
- The most commonly affected gene is TGM1 (transglutaminase-1), located on chromosome 14q11.2
- Mutations in the ABCA12 gene encoding a lipid transfer protein
- Disturbances in the ALOX12B and ALOXE3 genes involved in fatty acid metabolism
- Pathologies of the NIPAL4 (ICHTHYIN) gene, which affects magnesium transport
"About 70-80% cases of the disease are associated with mutations in the TGM1 gene," the experts emphasize. The mechanism of inheritance is autosomal recessive, which requires the presence of defective alleles in both parents.
Risk factors for the development of this disease
The development of lamellar ichthyosis can be provoked by the following factors:
- Consultative marriages between close relatives
- Exposure to Toxics During Pregnancy
- Unfavorable environmental conditions
- Maternal folate deficiency during gestation
- Exposure to ionizing radiation
According to research, the likelihood of having a child with the disease increases significantly if there are cases of pathology in the family.
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