Familial benign chronic vesicles: causes, symptoms, diagnosis, treatment

Familial benign chronic pemphigus (syn. Gougerot-Hailey-Hailey disease) is an autosomal dominantly inherited disease characterized by the appearance in puberty, but often later, of multiple flat blisters that quickly stick together and open up to form erosions in the neck, armpits, perineum, inguinal folds, around the navel, under the mammary glands, often with cracks and vegetations. After healing, hyperpigmentation remains. The course of familial benign chronic pemphigus is chronic, relapsing. There are atypical variants of this disease - with isolated lesions of the genitals, perianal and inguinal-femoral region, in the form of linear acantholytic dermatosis. In atypical cases, pathomorphological examination is of particular importance for diagnosis,

Pathomorphology of benign chronic familial pemphigus. In fresh elements of the rash, a similarity in the histological picture with Darier's disease is observed: suprabasal acantholysis with the formation of cracks or lacunae is detected, and in more developed elements - blisters. A characteristic sign is the formation of papillary outgrowths of the dermis protruding into the cavity of the bladder. Individual acantholytic cells or their groups are found in the cavity of the bladder.

Electron microscopic examination reveals a characteristic pattern of structural changes that differs from Darier's disease: in the basal epithelial cells that form the bases of the lacunae, bundles of tonofilaments are located chaotically, intercellular edema is expressed. On the surface of the epithelial cells, numerous cytoplasmic outgrowths - microvilli are revealed, unlike ordinary microvilli, they are thinned, elongated, branched. The number of desmosomes is reduced or they are absent, lysis of their terminal sections and division into two halves is noted. Acantholytic cells, especially immediately after their separation, retain microvilli, tonofilaments condense around the nucleus, deprived of contact with desmosomes. They contain well-developed organelles, signs of dystrophy are absent, which distinguishes them from acantholytic cells in ordinary pemphigus. In the spinous layer, the condensation of tonofilaments is expressed more sharply, they are thickened, collected in large bundles, sometimes twisted into spirals. Granular epithelial cells contain a few immature keratohyalin granules of a round or oval shape, not associated with tonofilaments. Horny scales contain nuclei and organelles, which indicates incomplete keratinization. In dyskeratotic cells, as in vegetative follicular dyskeratosis, condensation of tonofilaments occurs, keratohyalin granules are absent.

Histogenesis of benign chronic familial pemphigus. Based on electron microscopic data, some authors believe that acantholysis in this disease is caused by insufficient cellular adhesion as a result of changes in the surface properties of the epithelial cell membrane, which is morphologically manifested by the formation of a large number of microvilli, while others believe that acantholysis is based on a defect in the tonofilament-desmosome complex, as in Darier's disease.

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