Erythema congenital telangiectatica: causes, symptoms, diagnosis, treatment

Erythema congenita telangiectatica (synonym: Bloom syndrome) is an autosomal recessive disorder characterized by telangiectatic erythema on the face, short stature at birth, and decreased growth in length.

Causes and pathogenesis of congenital telangiectatic erythema. Congenital telangiectatic erythema is an autosomal recessive disease, gene locus - 15q26.1. In congenital telangiectatic erythema, weakening of DNA ligase activity, DNA repair disorder, direct increase in chromosome aberration, immunological changes are considered as the main pathogenetic factors.

Symptoms of congenital erythema telangiectatica. Several months after birth, the child develops erythema on exposed areas (face, nose, ears, extensor surfaces of the hands), then vesicles, purpura, telangiectasias and thick crusts.

Clinically, it manifests itself as persistent telangiectatic erythema located on the cheeks and in the nasal area, which makes it similar to lupus erythematosus. The erythema is photosensitive. Less often, similar changes are found on the auricles and the back of the hands; glossitis and cheilitis may occur. Growth retardation, combined immunodeficiency with a tendency to infectious diseases and an increased risk of developing malignant tumors are characteristic. In addition, various ecto- and mesodermal defects may occur.

Subsequently, erythema on the face weakens and atrophy, hyperpigmentation, sometimes follicular keratosis or ichthyosiform changes appear. The disease is characterized by slow growth, low weight, dwarfism, a large face and nose. Signs of infectious diseases are often noted in the upper respiratory tract and gastrointestinal tract, sexual weakness develops, but there are no deviations in mental development. The disease can be complicated by leukemia, skin cancer or freckles.

Pathomorphology. The epidermis is of uneven thickness, atrophic in places, vacuolar dystrophy of the basal epithelial cells is expressed, the vessels in the upper part of the dermis are dilated, sometimes small lymphohistiocytic infiltrates, proliferation of fibroblasts, and sparseness of the elastic network are observed along their course.

Histogenesis. Bloom syndrome is associated with a congenital immune defect. Decreased levels of IgA, IgM, and sometimes IgG, and a decreased proliferative response of lymphocytes to mitogens are noted. Immunomorphological examination reveals fibrin deposits in the basement membrane of the epidermis, IgM and IgG in cytoid bodies. There are disturbances of cellular and humoral immunity, and an increased risk of developing lymphoproliferative diseases. Cytogenetic examination reveals chromosomal instability with an increased frequency of sister chromatid exchanges. Deficiency of the enzyme DNA ligase I has been revealed.

Histopathology: Signs of banal inflammation are found.

Differential diagnosis. The disease should be distinguished from lupus erythematosus, Rothmund-Thompson syndrome, Cockayne syndrome.

Treatment of congenital erythema telangiectatica is symptomatic.

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