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Congenital telangiectatic erythema: causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Erythema congenital telangiectatic (synonym: Bloom syndrome) is an autosomal recurrent disease, manifested by telangiectatic erythema on the face, small growth at birth, and slow growth in length.
Causes and pathogenesis of erythema of congenital telangiectatic. Erythema congenital telangiectatic - autosomal recessive disease, gene locus - 15q26.1. With congenital telangiectatic erythema, weakening of DNA ligase activity, violation of DNA repair, direct increase in chromosome aberration, immunological changes are considered as the main pathogenetic factors.
Symptoms of erythema are congenital telangiectatic. A few months after birth, erythema, then vesicles, purpura, telangiectasias and thick crusts appear on the child in open areas (face, nose, ears, extensor surfaces of the hands).
Clinically manifested by persistent telangiectatic erythema, located on the cheeks and nose, which gives it a resemblance to lupus erythematosus. Erythema photosensitive. More rarely, such changes are found on the auricles and the rear of the hands; can be glossitis and cheilitis. Characteristic growth retardation, combined immunodeficiency with a tendency to infectious diseases and an increased risk of malignant tumors. In addition, there may be various ecto- and mesodermal defects.
Later erythema on the face weakens and there are atrophy, hyperpigmentation, sometimes - follicular keratosis or ichthyosiform changes. The disease is characterized by slow growth, low weight, dwarfism, a large face and nose. On the upper respiratory tract and gastrointestinal tract, there are often signs of infectious diseases, sexual weakness develops, but there are no deviations from the mental development. The disease can be complicated by leukemia, skin cancer or freckles.
Pathomorphology. Epidermis of uneven thickness, atrophic in places, vacuole dystrophy of basal epitheliocytes is expressed, vessels in the upper part of the dermis are enlarged, sometimes small lymphohystiocytic infiltrates, proliferation of fibroblasts, thinning of the elastic network are observed along the way.
Histogenesis. Bloom syndrome is associated with a congenital immune defect. A decrease in the level of IgA, IgM, and sometimes IgG, decreased proliferative response of lymphocytes to mitogens was noted. Immunomorphological examination reveals deposits of fibrin in the basement membrane of the epidermis, IgM and IgG in cytoid bodies. There are violations of cellular and humoral immunity, increased risk of developing lymphoproliferative diseases. In cytogenetic studies, chromosome instability with an increased frequency of sister chromatid exchanges is found. Deficiency of DNA ligase I enzyme was revealed.
Histopathology. There are signs of banal inflammation.
Differential diagnosis. The disease should be distinguished from lupus erythematosus, Rothmund-Thompson syndrome, Cocaine syndrome.
Treatment of erythema is congenital telangiectatic symptomatic.
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