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Bloom Syndrome (Congenital Telangiectatic Erythema): Differential Diagnoses & Workup

Author: Amir Bajoghli, MD, Clinical Assistant Professor, George Washington University School of Medicine; Chief, Dermatology and Mohs Surgery Section, Inova Fairfax Hospital
Contributor Information and Disclosures

Updated: Feb 28, 2007

Differential Diagnoses

Rothmund-Thomson Syndrome

Other Problems to Be Considered

Cockayne syndrome is differentiated by the presence of premature aging, deafness, mental retardation, and retinal degeneration.
Rothmund-Thomson syndrome is differentiated by the early onset of poikiloderma and cataracts.
Lupus erythematosus is differentiated by accompanying rheumatologic and serologic associations.
Erythropoietic protoporphyria is differentiated by the presence of red blood cell protoporphyrins and positive red blood cell fluorescence.

Workup

Laboratory Studies

  • The diagnosis of Bloom syndrome can be confirmed or excluded by a laboratory test known as a chromosome study; blood and skin cells show a characteristic pattern of chromosome breakage and rearrangement. Testing for chromosome instability, including the presence of quadriradicals and increased sister chromatid exchanges, is performed at the US National Institutes of Health and US Armed Forces Institute of Pathology laboratories.
  • Immunoglobulin levels should be checked; decreased immunoglobulin A and immunoglobulin M, with or without immunoglobulin G changes, are expected.

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. Cheok CF, Bachrati CZ, Chan KL, et al. Roles of the Bloom's syndrome helicase in the maintenance of genome stability. Biochem Soc Trans. Dec 2005;33(Pt 6):1456-9. [Medline].

  3. 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].

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

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

  6. 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.

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

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

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

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

  11. 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].

  12. 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].

  13. 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].

  14. 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].

  15. 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].

  16. 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

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 Bajoghli, MD, Clinical Assistant Professor, George Washington University School of Medicine; Chief, Dermatology and Mohs Surgery Section, Inova Fairfax Hospital
Amir 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 Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine 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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