Bloom Syndrome (Congenital Telangiectatic Erythema) Treatment & Management
- Author: Amira M Elbendary, MBBCh, MSc; Chief Editor: Dirk M Elston, MD more...
Bloom syndrome (congenital telangiectatic erythema) has no specific treatment; however, avoiding sun exposure and using sunscreens can help prevent some of the cutaneous changes associated with photosensitivity. Efforts to minimize exposure to other known environmental mutagens are also advisable.
Immunoglobulin replacement can be instituted in cases of severe hypogammaglobulinemia.
Infections should be managed thoroughly.
Surgical oncology care can be instituted as needed for the diagnosis and treatment of malignancies.
The following consultations may be warranted in Bloom syndrome (congenital telangiectatic erythema):
- Dermatologist for establishing the diagnosis, patient and family education, and sun protection guidance
- Pediatric infectious disease specialist for appropriate treatment of gastrointestinal and respiratory tract infections
- Pediatrician for evaluation of stunted growth
- Oncologist for cancer surveillance
- Endocrinologist for short stature and hypogonadism management
Men with Bloom syndrome (congenital telangiectatic erythema) 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.
Bloom D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity. AMA Am J Dis Child. 1954 Dec. 88(6):754-8. [Medline].
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. 1996 Jul 1. 35(1):118-28. [Medline].
Park CJ, Ko J, Ryu KS, Choi BS. Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. J Biomol NMR. 2014 Feb. 58(2):141-7. [Medline].
Kim SY, Hakoshima T, Kitano K. Structure of the RecQ C-terminal domain of human Bloom syndrome protein. Sci Rep. 2013 Nov 21. 3:3294. [Medline].
Salah GB, Salem IH, Masmoudi A, Rhouma BB, Turki H, Fakhfakh F, et al. Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. J Eur Acad Dermatol Venereol. 2014 Oct. 28(10):1318-23. [Medline].
Payne M, Hickson ID. Genomic instability and cancer: lessons from analysis of Bloom's syndrome. Biochem Soc Trans. 2009 Jun. 37:553-9. [Medline].
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. 2006 Aug. 26(16):6299-307. [Medline].
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. 2011 Jul 19. 108(29):11971-6. [Medline]. [Full Text].
Risch N, Tang H, Katzenstein H, Ekstein J. Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am J Hum Genet. 2003 Apr. 72(4):812-22. [Medline]. [Full Text].
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. 1989 Oct 1. 49(19):5239-43. [Medline].
Deans AJ, West SC. FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia. Mol Cell. 2009 Dec 25. 36(6):943-53. [Medline].
Guo R, Xu D, Wang W. Identification and analysis of new proteins involved in the DNA damage response network of Fanconi anemia and Bloom syndrome. Methods. 2009 May. 48(1):72-9. [Medline]. [Full Text].
Zbinden I, Cerutti P. Near-ultraviolet sensitivity of skin fibroblasts of patients with Bloom's syndrome. Biochem Biophys Res Commun. 1981 Feb 12. 98(3):579-87. [Medline].
Lehmann AR, Kirk-Bell S, Arlett CF, Paterson MC, Lohman PH, de Weerd-Kastelein EA, et al. Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proc Natl Acad Sci U S A. 1975 Jan. 72(1):219-23. [Medline]. [Full Text].
Li L, Eng C, Desnick RJ, German J, Ellis NA. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab. 1998 Aug. 64(4):286-90. [Medline].
Preston K. Bloom's syndrome. Australas J Dermatol. 1973 Dec. 14(3):143-50. [Medline].
Passarge E. Bloom’s syndrome. German J, ed. Chromosome Mutation and Neoplasia. New York, NY: Alan R. Liss; 1983. 11–21.
Vojtková J, Čiljaková M, Jeseňák M, Mišovicová N, Bánovčin P. Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. Int J Dermatol. 2015 Sep 4. [Medline].
Sultan SJ, Sultan ST. Bloom syndrome in two siblings. Pediatr Dermatol. 2010 Mar-Apr. 27(2):174-7. [Medline].
German J. The immunodeficiency of Bloom syndrome. Ochs HD, Smith CIE, Puck JM, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York, NY: Oxford University Press; 1999. 335.
Amor-Guéret M. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett. 2006 May 8. 236(1):1-12. [Medline].
Relhan V, Sinha S, Bhatnagar T, Garg VK, Kochhar A. Bloom syndrome with extensive pulmonary involvement in a child. Indian J Dermatol. 2015 Mar-Apr. 60 (2):217. [Medline].
Nair G, Lobo I, Jayalaksmi TK, Uppe A, Jindal S, Chandra A, et al. Bloom syndrome with lung involvement. Lung India. 2009 Jul. 26 (3):92-4. [Medline].
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. 2011 Dec 19. 12(12):R121. [Medline].
McGowan J, Maize J, Cook J. Lupus-Like Histopathology in Bloom Syndrome: Reexamining the Clinical and Histologic Implications of Photosensitivity. Am J Dermatopathol. 2009 Oct 8. [Medline].
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, et al. Bloom syndrome. Int J Dermatol. 2014 Jul. 53(7):798-802. [Medline].
Thomas ER, Shanley S, Walker L, Eeles R. Surveillance and treatment of malignancy in Bloom syndrome. Clin Oncol (R Coll Radiol). 2008 Jun. 20(5):375-9. [Medline].
Chisholm CA, Bray MJ, Karns LB. Successful pregnancy in a woman with Bloom syndrome. Am J Med Genet. 2001 Aug 1. 102(2):136-8. [Medline].
Kaneko H, Inoue R, Fukao T, Kasahara K, Tashita H, Teramoto T, et al. Two Japanese siblings with Bloom syndrome gene mutation and B-cell lymphoma. Leuk Lymphoma. 1997 Nov. 27(5-6):539-42. [Medline].