Bloom Syndrome (Congenital Telangiectatic Erythema) 

  • Author: Amir A Bajoghli, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 24, 2012
 

Background

Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectases and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. The New York dermatologist David Bloom first described the syndrome in 1954.[1]

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Pathophysiology

Bloom syndrome (congenital telangiectatic erythema) is caused by a mutation in the gene designated BLM, traced to band 15q26.1.[2] The protein encoded by the normal gene has DNA helicase activity and functions in the maintenance of genomic stability.[3, 4] Increased sister chromatid exchanges and chromosomal instability also occur, which is assumed to be responsible for the phenotype and the cancer predisposition.[5, 6] Additionally, Broburg et al report that the presence of genetic variants of BLM, as well as proteins that form complexes with BLM (eg, TOP3A, RMI1), also increases cancer risk.[7]

In 1989, Nicotera et al suggested that the major biochemical defect in persons with Bloom syndrome (congenital telangiectatic erythema) is chronic overproduction of the superoxide radical anion. They thought that inefficient removal of peroxide might be responsible for the high rates of sister chromatid exchange and chromosomal damage in Bloom syndrome cells.[8]

Bugreev et al suggest that a function of BLM is stimulation of RAD51 DNA pairing; results from their study show the importance of the RAD51 nucleoprotein filament conformation for stimulating DNA pairing by BLM.[9]

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Epidemiology

Frequency

United States

More than 170 case reports of Bloom syndrome (congenital telangiectatic erythema) have been made. The frequency of parental consanguinity is much greater than in the general population.

International

Bloom syndrome (congenital telangiectatic erythema) is more common in Ashkenazi Jews but has been reported in Japan and other countries.

Mortality/Morbidity

Early diagnosis of leukemia is, at present, not known to improve the chances of curative therapy. Frequent hematologic examinations in children are not advised for fear of untoward psychologic effects. Allogeneic marrow grafting has not been performed in Bloom syndrome (congenital telangiectatic erythema) patients. Men with Bloom syndrome are sterile; women have reduced fertility and a shortened reproductive span. Bloom syndrome patients who become pregnant are at high risk for premature delivery. Intelligence is usually normal, although mild deficiency has occurred in a few affected persons. Diabetes occurs in approximately 10% of individuals with Bloom syndrome (congenital telangiectatic erythema).

Race

Bloom syndrome (congenital telangiectatic erythema) is more common in eastern European Ashkenazi Jews.

Sex

The male-to-female ratio for Bloom syndrome (congenital telangiectatic erythema) is 1.3:1.

Age

Bloom syndrome (congenital telangiectatic erythema) occurs in the first few months of life.

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Proceed to Clinical Presentation
 
 
Contributor Information and Disclosures
Author

Amir A Bajoghli, MD  Clinical Assistant Professor of Dermatology, George Washington University School of Medicine and Georgetown University; Chief, Dermatology and Mohs Surgery Section, Inova Fairfax Hospital; Dermatologist, Skin and Laser Surgery Center, PC

Amir A Bajoghli, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, and Massachusetts Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Eleanor E Sahn, MD  Director, Division of Pediatric Dermatology, Associate Professor, Departments of Dermatology and Pediatrics, Medical University of South Carolina

Eleanor E Sahn, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Southern Medical Association

Disclosure: Nothing to disclose.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD  Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

  1. Bloom D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity. AMA Am J Dis Child. Dec 1954;88(6):754-8. [Medline].

  2. Straughen J, Ciocci S, Ye TZ, et al. Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. Genomics. Jul 1 1996;35(1):118-28. [Medline].

  3. Cheok CF, Bachrati CZ, Chan KL, Ralf C, Wu L, Hickson ID. Roles of the Bloom's syndrome helicase in the maintenance of genome stability. Biochem Soc Trans. Dec 2005;33:1456-9. [Medline].

  4. Chabosseau P, Buhagiar-Labarchède G, Onclercq-Delic R, Lambert S, Debatisse M, Brison O, et al. Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. Nat Commun. Jun 28 2011;2:368. [Medline].

  5. Seki M, Nakagawa T, Seki T, et al. Bloom helicase and DNA topoisomerase IIIalpha are involved in the dissolution of sister chromatids. Mol Cell Biol. Aug 2006;26(16):6299-307. [Medline].

  6. LaRocque JR, Stark JM, Oh J, Bojilova E, Yusa K, Horie K, et al. Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. Proc Natl Acad Sci U S A. Jul 19 2011;108(29):11971-6. [Medline]. [Full Text].

  7. Broberg K, Huynh E, Schlawicke Engstrom K, et al. Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. BMC Cancer. May 11 2009;9:140. [Medline].

  8. Nicotera TM, Notaro J, Notaro S, Schumer J, Sandberg AA. Elevated superoxide dismutase in Bloom's syndrome: a genetic condition of oxidative stress. Cancer Res. Oct 1 1989;49(19):5239-43. [Medline].

  9. Bugreev DV, Mazina OM, Mazin AV. Bloom syndrome helicase stimulates RAD51 DNA strand exchange activity through a novel mechanism. J Biol Chem. Sep 25 2009;284(39):26349-59. [Medline].

  10. Garcia AM, Salomon RN, Witsell A, Liepkalns J, Calder RB, Lee M, et al. Loss of the Bloom Syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila. Genome Biol. Dec 19 2011;12(12):R121. [Medline].

  11. McGowan J, Maize J, Cook J. Lupus-Like Histopathology in Bloom Syndrome: Reexamining the Clinical and Histologic Implications of Photosensitivity. Am J Dermatopathol. Oct 8 2009;[Medline].

  12. Thomas ER, Shanley S, Walker L, Eeles R. Surveillance and treatment of malignancy in Bloom syndrome. Clin Oncol (R Coll Radiol). Jun 2008;20(5):375-9. [Medline].

  13. Chisholm CA, Bray MJ, Karns LB. Successful pregnancy in a woman with Bloom syndrome. Am J Med Genet. Aug 1 2001;102(2):136-8. [Medline].

  14. Ellis NA, German J. Molecular genetics of Bloom's syndrome. Hum Mol Genet. 1996;5 Spec No:1457-63. [Medline].

  15. German J. Bloom syndrome: a mendelian prototype of somatic mutational disease. Medicine (Baltimore). Nov 1993;72(6):393-406. [Medline].

  16. German J. Bloom's syndrome. Dermatol Clin. Jan 1995;13(1):7-18. [Medline].

  17. German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet. Jan 1997;93(1):100-6. [Medline].

  18. German J. Bloom syndrome X. The cancer proneness points to chromosome mutation as a crucial event in human neoplasia. In: German J, ed. Chromosome Mutation and Neoplasia. New York, NY: Alan R. Liss; 1983:347-57.

  19. Gretzula JC, Hevia O, Weber PJ. Bloom's syndrome. J Am Acad Dermatol. Sep 1987;17(3):479-88. [Medline].

  20. Keller C, Keller KR, Shew SB, Plon SE. Growth deficiency and malnutrition in Bloom syndrome. J Pediatr. Apr 1999;134(4):472-9. [Medline].

  21. Kim YM, Yang I, Lee J, Koo HS. Deficiency of Bloom's syndrome protein causes hypersensitivity of C. elegans to ionizing radiation but not to UV radiation, and induces p53-dependent physiological apoptosis. Mol Cells. Oct 31 2005;20(2):228-34. [Medline].

  22. Krejci L, Van Komen S, Li Y, et al. DNA helicase Srs2 disrupts the Rad51 presynaptic filament. Nature. May 15 2003;423(6937):305-9. [Medline].

  23. Magnusson KP, Sandstrom M, Stahlberg M, et al. p53 splice acceptor site mutation and increased HsRAD51 protein expression in Bloom's syndrome GM1492 fibroblasts. Gene. Apr 4 2000;246(1-2):247-54. [Medline].

  24. Wu L, Davies SL, North PS, et al. The Bloom's syndrome gene product interacts with topoisomerase III. J Biol Chem. Mar 31 2000;275(13):9636-44. [Medline].

 
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