eMedicine Specialties > Dermatology > Pediatric Diseases

Bloom Syndrome (Congenital Telangiectatic Erythema): Follow-up

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
Contributor Information and Disclosures

Updated: Nov 13, 2009

Follow-up

Prognosis

  • Neoplasms in Bloom syndrome (congenital telangiectatic erythema)
    • Increased risk of premature death in the second or third decade occurs secondary to malignancies.
    • Various types of leukemia develop at a mean age of 22 years.
    • Patients who survive beyond age 22 years develop solid tumors at an average age of 35 years. Fortunately, these tumors are sensitive to chemotherapy and radiotherapy.
  • Infections: Resistance to infections gradually improves with age.
  • Skin: Erythema and photosensitivity improve with age.

Patient Education

  • Bloom Syndrome Registry
    Laboratory of Human Genetics
    New York Blood Center
    310 East 67th Street
    New York, NY 10021
    (212) 570-3075; Fax (212) 570-3195
    Contact person: James L German III, MD

Miscellaneous

Medicolegal Pitfalls

  • Failure to consider a diagnosis of Bloom syndrome (congenital telangiectatic erythema) in infants with low birthweight and in those with failure to thrive, especially if they have photosensitivity or facial erythema
  • Failure to make the diagnosis or a delay in diagnosis, which can result in delayed surveillance or diagnosis of malignancies and inadequate therapy for immunodeficiency or subsequent infections

Special Concerns

  • Prenatal diagnosis of Bloom syndrome (congenital telangiectatic erythema) is possible with amniocentesis for amniotic fluid cell culture to assess for a high number of sister chromatid exchanges; DNA analysis will be available in the near future.
  • Men with Bloom syndrome are sterile; women have reduced fertility and a shortened reproductive span. A 19-year-old woman with Bloom syndrome was reported with a successful pregnancy. Preterm labor occurred at 32 weeks' gestation, and the infant was ultimately delivered at 35 weeks' gestation. The infant was at less than the tenth percentile for length and weight for gestational age, but was otherwise healthy. Because preterm labor had occurred in this and a previously reported pregnancy in women with Bloom syndrome, increased surveillance for preterm labor in pregnancies of women with Bloom syndrome is suggested.
 


More on Bloom Syndrome (Congenital Telangiectatic Erythema)

Overview: Bloom Syndrome (Congenital Telangiectatic Erythema)
Differential Diagnoses & Workup: Bloom Syndrome (Congenital Telangiectatic Erythema)
Treatment & Medication: Bloom Syndrome (Congenital Telangiectatic Erythema)
Follow-up: Bloom Syndrome (Congenital Telangiectatic Erythema)
Multimedia: Bloom Syndrome (Congenital Telangiectatic Erythema)
References
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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. 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].

  5. 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].

  6. 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].

  7. 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].

  8. 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].

  9. 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].

  10. 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].

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

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

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

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

  15. 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.

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

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

  18. 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].

  19. 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].

  20. 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].

  21. 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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Further Reading

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Keywords

Bloom syndrome, BS, congenital telangiectatic erythema, Bloom's syndrome, telangiectases, photosensitivity, grow deficiency, growth retardation, growth restriction, malignancy predisposition

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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.

Medical Editor

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.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
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.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
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.

CME Editor

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, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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