Revisited diagnostics of hereditary epidermolysis bullosa

Abstract

Hereditary epidermolysis bullosa is a big group of hereditary diseases with the main manifestations in the form of blisters on the skin and mucous coat after slight mechanical injuries. It is not always possible to diagnose this disease based on the clinical picture. The article discusses current laboratory diagnostics methods for hereditary epidermolysis bullosa including immunofluorescence antigen mapping (IFM), transmission electron microscopy (TEM) and genetic analysis (molecular or DNA diagnostics) as well as their advantages and disadvantages. TEM determines the micro splitting level and nature of ultrafine changes in the area of the dermoepidermal junction; at the same time, such tests need special expensive equipment. Substantial experience is also needed to analyze the resulting submicroscopic images. IFM determines whether expression of the affected protein related to the disease development is reduced or absent; however, invalid (false positive or false negative) results can be obtained in patients with the reduced expression of the affected protein. Genetic analysis plays a key role for prenatal diagnostics. Therefore, to make an exact diagnosis of hereditary epidermolysis bullosa, it is expedient to apply IFM, TEM and genetic analysis. The need to set an exact diagnosis of the disease is related to the fact that the promising treatment methods being currently developed are aimed at treating patients with certain forms of the disease.

Keywords

• врожденный буллезный эпидермолиз
• трансмиссионная электронная микроскопия
• иммунофлюоресцентное антигенное картирование
• молекулярная диагностика
• пренатальная диагностика
• генетическое консультирование
• hereditary epidermolysis bullosa
• transmission electron microscopy
• immunofluorescence antigen mapping
• molecular diagnostics
• prenatal diagnostics
• genetic consulting