Bloom Syndrome (Congenital Telangiectatic Erythema) Clinical Presentation

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

History

  • Physical features of Bloom syndrome (congenital telangiectatic erythema)
    • Growth delay is the most impressive clinical feature of Bloom syndrome and is usually the first manifestation that causes the parents to seek medical attention.
    • Other associated physical features and immunodeficiency are not present or recognizable at birth.
    • The growth deficiency has a prenatal onset, apparent from term birth measurements, and persists throughout life.
    • More than half the children are significantly underdeveloped in physical stature until age 8 years.
  • Neoplasia
    • Patients with Bloom syndrome (congenital telangiectatic erythema) have an overall 150- to 300-times increased risk of malignancy compared with the general population.
    • Twenty percent of patients with Bloom syndrome develop malignancies (eg, acute leukemia, lymphoma, gastrointestinal adenocarcinoma).
  • Immunology: Patients with Bloom syndrome have decreased immunoglobulin A and immunoglobulin M, with recurrent respiratory and gastrointestinal tract infections.
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Physical

  • Skin findings in Bloom syndrome (congenital telangiectatic erythema)
    • Telangiectatic erythema appears as macules or plaques in a butterfly distribution on the face and other photodistributed areas. Eyes may have scleral telangiectases.
    • Cheilitis with crusting or bleeding is present.
    • Café au lait macules with adjacent hypopigmented areas appear as twin spotting.
  • Craniofacial/body habitus
    • Lack of subcutaneous fat contributes to a characteristic birdlike facies with a long, narrow face and prominent nose. The skull shape is dolichocephalic.
    • Patients have malar hypoplasia and small mandibles.
    • Affected individuals have relatively large protruding ears.
    • Long limbs, disproportionally large hands and feet, and progressive contracture of hands and feet are noted. Upper extremities are long in proportion to body length.
    • Quick, birdlike movements are characteristic.
    • Patients have short stature.
  • Ear, nose, and throat: Patients have a high-pitched voice.
  • Endocrine: Patients have primary hypogonadism.
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Causes

Bloom syndrome (congenital telangiectatic erythema) is genetic with an autosomal recessive pattern of inheritance. The gene locus is band 15q26.1.

  • Cytogenetic findings in a Bloom syndrome patient with acute myeloid leukemia of the French-American-British subtype M1 showed preferential occurrence of total or partial loss of chromosome 7.
  • Mutation of the DNA ligase I gene may account for the primary metabolic defect in Bloom syndrome, not due to a reduction in the number of protein molecules or to inhibitory substances, but rather to the ATP-binding and hydrolytic activity of the enzyme. DNA ligase I and DNA polymerase alpha are enzymes that function during DNA replication; DNA ligase II and DNA polymerase-beta function during DNA repair.[10]
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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.

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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