Bloom syndromeQ82.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 22.11.2022

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Synonym(s)

Bloom-Torre-Machacek Syndrome; Congenital teleangiectatic erythema; Erythema congenital telangiectatic; Erythema teleangiectaticum congenitale; OMIM 210900

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HistoryThis section has been translated automatically.

Bloom, 1954

DefinitionThis section has been translated automatically.

Rare, autosomal recessive inherited syndrome characterized by teleangiectatic erythema in light-exposed areas with possible blistering in childhood, dwarfism. Pronounced tendency to develop neoplasias (20%) as well as susceptibility to infection due to a congenital T-cellular immunodeficiency (see below immunodeficiencies, T-cellular, primary).

Occurrence/EpidemiologyThis section has been translated automatically.

Most commonly among Ashkenazi Jews.

EtiopathogenesisThis section has been translated automatically.

Mutations of the BLM gene mapped to gene locus 15q26.1 with consecutive disruption of the DNA helicase RECQL2. This DNA helicase is involved in the opening of double-stranded DNA prior to its replication, as it is in Werner syndrome. In somatic cells of patients with Bloom syndrome, a 10-fold increased rate of sister chromatid exchanges is found compared to non-mutated human cells.

Mutations in the LIG1 gene are also associated with this syndrome.

Other DNA repair defects are also observed. The gene defect leads to chromosome instability upon UV irradiation.

ManifestationThis section has been translated automatically.

The first year of life. Androtrophy.

Clinical featuresThis section has been translated automatically.

The clinical picture can be summarized under the descriptive term "photosensitive male dwarfs".

Integument: Butterfly-shaped facial erythema, interspersed with telangiectasias, reminiscent of lupus erythematosus, telangiectasias of the back of the hand and forearms. Intensification under the influence of sunlight, possible blistering of lips and eyelids. Frequently café-au-lait stains, possibly acanthosis nigricans benigna.

Extracutaneous manifestations: Proportioned small growth with a final height of less than 150 cm; characteristic long, narrow face with a narrow nose and receding forehead. In male patients azoospermia with consecutive infertility with otherwise normal sexual development. Normal intelligence. More frequent infections. Early development of neoplasia, especially lymphatic and myeloid leukemias, lymphomas, carcinomas of the oral cavity and gastrointestinal tract.

LaboratoryThis section has been translated automatically.

Immunoglobulins are degraded. Chromosomal anomalies: strongly increased chromosomal fragility with formation of dicentric chromosomes and acentric fragments. Characteristic quadriradial configurations. Decreased cellular proliferation rate on mitogens.

TherapyThis section has been translated automatically.

Symptomatic therapy with textile and physical/chemical sun protection (e.g. Anthelios, see also light protection agents), close monitoring of the skin to exclude neoplasia, early antimicrobial therapy If necessary, substitution of immunoglobulins.

Progression/forecastThis section has been translated automatically.

Death mostly in the 2nd or 3rd decade of life.

LiteratureThis section has been translated automatically.

  1. Bloom D (1954) Congenital teleangiectatic erythema resempling lupus erythematodes in dwarfs. Probably a syndrome entity. Am J Dis Child 88: 254-758
  2. Gretzula JC et al (1987) Bloom's syndrome. J Am Acad Dermatol 17: 479-488
  3. Hübinger L et al (2014) Genodermatoses with malignant skin tumors. Dermatologist 65: 520-535
  4. Mayershausen W et al (1988) Congenital teleangiectatic erythema (Bloom syndrome). Dermatologist 39: 363-367
  5. Meetei AR (2003) A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Mol Cell Biol 23: 3417-3426
  6. Yankiwski V et al (2000) Nuclear structure in normal and Bloom syndrome cells. Proc Natl Acad Sci USA 97: 5214-5219

Authors

Last updated on: 22.11.2022

Author: Prof. Dr. med. Peter Altmeyer