[Current approaches to the morphologic diagnosis of different types of congenital epidermolysis bullosa]. / Sovremennye podkhody k morfologicheskoi diagnostike razlichnykh tipov vrozhdennogo bulleznogo epidermoliza.

Congenital epidermolysis bullosa (CEB) is an extensive group of hereditary skin diseases, the differential diagnosis of which is a challenge due to the rarity of this pathology and the diversity of its clinical manifestations. The determination of the type of CEB makes it possible to estimate its prognosis and to facilitate a prenatal diagnosis. AIM: to optimize the morphological diagnosis of different types of CEB. MATERIAL AND METHODS: 28 skin biopsies from 14 patients with different types of CEB were investigated. The investigators performed routine histological examination of skin fragments taken from a bullous area and immunofluorescence antigen mapping using the indirect immunofluorescence test (IIFT) with antibodies against structural proteins of the dermal-epidermal junction (laminin α3, ß3, and γ2 chains, keratins 5 and 14, types VII and XVII collagen, α6 and ß4 integrin subunits, desmoplakin, plectin, kindlin-1, and plakophillin) of the apparently unaffected skin. The intact skin of healthy individuals, which had been obtained during cosmetic operations, was used as controls in IIFT. RESULTS: Immunofluorescence antigen mapping could determine the type of CEB in all cases and in 86% of cases identify the protein, the impaired production of which was responsible for the development of the disease. CONCLUSION: Immunofluorescence antigen mapping is an integral part of the comprehensive morphological diagnosis of CEB, acting as an intermediate between the morphological verification of CEB diagnosis and the targeted search for mutations by a molecular genetic method.

[Skin morphology in congenital ichthyosis (Harlequin fetus)].

The paper describes a skin morphological examination using an immunohistochemical study (Ki-67, cytokeratin (CK) 5/6, and CK LMW) in a dead 4-month-old girl with congenital ichthyosis (Harlequin ichthyosis (HI)). There is impaired proliferative activity, abnormalities in epidermal differentiation with abnormal CK LMW synthesis, and those in the differentiation of the skin appendages. There are also pronounced sclerotic changes with a predominance of reticulin fibers, derma, and its vessels. The patient with HI and trichoepithelioma is noted to have the similar immunohistochemical phenotype of hair bulbs.

Surgical treatment of contracture and syndactyly of children with epidermolysis bullosa.

A new approach to the operative treatment of syndactyly and contracture of the hands of children with recessive dystrophic epidermolysis bullosa is described. It is based upon the principle of surgical release of fingers allowing spontaneous epithelialisation of skin wounds without using skin grafts. Nineteen children had operations using this method, with an incidence of recurrence of 53%. This method has the advantage of a short operating time, simple technique and limited trauma.

Morphology of skin microvasculature in psoriasis.

To establish the character of microvascular changes in psoriatic skin and their specificity, 29 skin biopsies of psoriatics (20 in exacerbation and 9 in a stationary stage) were investigated using histologic, histochemical, immunomorphologic, electron-microscopic, and morphometric methods. Five biopsies of uninvolved skin in scleroderma and five of diabetes mellitus patients were studied with the same technique for comparison. The results showed that structural changes depend on disease stage and the clinical appearance of lesions. Microvascular changes precede papule appearance during exacerbation and gradually increase during papule development. They comprise vascular dilatation, bridged fenestrations and gaps in endothelium, edematous areas in the cytoplasm of endotheliocytes, myocytes and pericytes, basement-membrane-zone thickening, and cell extravasation--signs of increased vascular permeability. Immunoglobulin G deposits in vascular walls, degranulation of mast cells, and extravasation of lymphocytes and neutrophils indicate that inflammation is a basic process during exacerbation and that immune mechanisms play an important role in the pathogenesis of inflammation. Microvascular changes in scleroderma and diabetes mellitus are different in nature and do not resemble those in psoriasis.