Epidermolysis bullosa (BE) – a hereditary disease caused by genetically predetermined defects in the structure or synthesis of proteins of the epidermal cover. Clinically, the pathology manifests itself in the form of increased fragility of the skin with the appearance of blisters and erosive lesions. Therefore, I also call BE mechanobullous disease, sometimes – pemphigus of newborns. There are no data on the prevalence of pathology in our country, which is associated with insufficient awareness of neonatologists and pediatricians about the pathogenetic and therapeutic features of the disease. On estet-portal.com read about the main symptoms of epidermolysis bullosa, methods for diagnosing pathology and approaches to treatment.
- Epidermolysis bullosa: modern classification and etiological factors
- Prenatal and postnatal instrumental diagnostic methods
- Epidermolysis bullosa: clinical presentation and treatment methodsi
Epidermolysis bullosa: modern classification and etiological factors
The principles of the modern classification of epidermolysis bullosa were approved in 2008. They are based on localization of epidermal structural defects and histological findings. The main groups of pathology include the following types of disease:
- Simple BE is classified into two subtypes: suprabasal associated with defective desmoplakin and plakophilin 1 production and basal associated with defective type 5 keratinocytes and 14, plectin, α6β4 integrin.
- Border BE. This type of pathology is associated with impaired synthesis of laminin, collagen and other protein structures.
- Dominant dystrophic EB. In addition to diffuse lesions, it can affect keratinized skin areas. It occurs due to a defect in the collagen structure of type 7. Differs in deep lesions up to the articular tissues, mucous membranes.
- Recessive dystrophic EB. Associated with pathology of collagen type 7 synthesis.
- Kindler Syndrome. Pathogenetic changes affect all layers of the epidermal cover. The occurrence of this form of epidermolysis bullosa is due to a defect in the protein kindilin 1.
The deeper the epidermal lesion, the higher the risk of residual effects after healing of erosions. In the place of localization of cicatricial changes, malignant neoplasms often form. Despite modern laboratory research methods, it is not always possible to identify the exact type of pathology, which affects the effectiveness of treatment.
Fragile skin: clinical presentation, diagnosis and treatment of epidermolysis bullosaa
Prenatal and postnatal instrumental diagnostic methods
BE detection methods are divided into post- and prenatal. Before the birth of a child, a biopsy of the skin of the fetus (at the 16th week of pregnancy), chorionic villi (at 9 & ndash; 11 weeks of fetal development) is prescribed for diagnosis. These invasive interventions are carried out on 15 – 16 weeks pregnant. Changes in the skin characteristic of epidermolysis bullosa are determined using light and electron microscopy using specific monoclonal antibodies.
When examining chorionic villi for signs of epidermolysis bullosa, DNA – analysis.
Postnatal diagnosis includes the use of non-molecular techniques, including examination of the patient, history taking, microscopy, antigen mapping. Molecular techniques for diagnosing epidermolysis bullosa include PCR analysis.
Read the most interesting articles in Telegram!
Epidermolysis bullosa: clinical presentation and treatment options
Regardless of the type of epidermolysis bullosa, the clinical picture of the disease includes the formation of bursting blisters and ulcerations in response to tactile or mechanical stimulation. Characteristic differences between the subtypes of epidermal lesions are the healing time and the depth of erosion.
Therapy is based on local dressings to prevent skin contact with environmental factors. They include antiseptic, antibacterial and analgesic, regenerating components. Also, for the treatment of BE, coatings with collagen, hydrogel, colloids are used. The therapy process includes the application of moisturizing ointments. Transplantation of cultured keratinocytes is indicated.
New treatment regimens for epidermolysis bullosa are currently being developed. Methods of protein, gene and cell therapy are considered promising.
Despite all the ongoing research, there is no effective specific way to eliminate the pathology. The hopes of doctors are connected with the achievements of genetic engineering in combination with the improvement of diagnostic methods.
"Butterfly Syndrome": a promising treatment for patients with severe pathology
Share:
Add a comment