Medical Care

Bloom syndrome (congenital telangiectatic erythema) has no specific treatment, but general management recommendations have been published by Cunniff et al.^[49]

Skin

Avoid excessive sun exposure. Cover exposed skin with clothing and use a broad-brimmed hat and UV-blocking sunglasses. Frequent use of sun screens is recommended. Efforts to minimize exposure to other known environmental mutagens are also advisable.^[50]Identification of café-au-lait macules by dermatologists would help to identify the risk of neoplasms in these patients.^[51]

Psychosocial

Family and teachers are encouraged to relate to Bloom syndrome patients appropriately for their chronologic age rather than the younger age suggested by their unusually small size.

Growth

Growth hormone administration has been reported in the literature to improve linear growth. However, if there is lack of response regarding the velocity of growth, growth hormone should be discontinued owing to increased risk of tumor development. Serum IgE-1 and IgFBp-3levels should be monitored closely during treatment administration.

Nutrition

Gastroenterologist or feeding specialist consultation, institution of high-calorie diets with caution for high-fat or high-cholesterol diet, institution of reflux precautions, and use of antireflux medications are recommended.

Other

Infants, toddlers, and preschool-age children should be closely monitored for cognitive development and school performance.

Diabetes mellitus, thyroid abnormalities, and dyslipidemia should be managed according to standard protocols.

Immunoglobulin replacement can be instituted in cases of severe hypogammaglobulinemia.

Infections and cancerInfections should be managed thoroughly.

Medical treatment of cancers in patients with Bloom syndrome has many challenges; chemotherapy-induced toxicity and the immunodeficiency inherent to the disease may require reductions in the dose and number of treatment cycles of chemotherapy,^[52]as it was found that standard chemotherapy has resulted in significant toxicity and some were life threatening. Alkylating agents may increase the risk of secondary malignancy; therefore, they should be avoided. Bloom syndrome and mature B-cell lymphoma has been successfully treated with rituximab.^[53]

Surgical Care

Surgical oncology care can be instituted as needed for the diagnosis and treatment of malignancies.

Consultations

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

Activity

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.^[54]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.

Strict photoprotection should be practiced by these patients.

Questions

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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Payne M, Hickson ID. Genomic instability and cancer: lessons from analysis of Bloom's syndrome. Biochem Soc Trans. 2009 Jun. 37:553-9. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link]. [Full Text].
Aguilera A, Gómez-González B. Genome instability: a mechanistic view of its causes and consequences. Nat Rev Genet. 2008 Mar. 9 (3):204-17. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link]. [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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link]. [Full Text].
Bugreev DV, Mazina OM, Mazin AV. Bloom syndrome helicase stimulates RAD51 DNA strand exchange activity through a novel mechanism. J Biol Chem. 2009 Sep 25. 284(39):26349-59. [QxMD MEDLINE Link]. [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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link]. [Full Text].
Hütteroth TH, Litwin SD, German J. Abnormal immune responses of Bloom's syndrome lymphocytes in vitro. J Clin Invest. 1975 Jul. 56(1):1-7. [QxMD MEDLINE Link]. [Full Text].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Weill Cornell Medical College, Bloom’s Syndrome Registry. A Concise Clinical Description of Bloom’s Syndrome. Available at http://weill.cornell.edu/bsr/clinical_description/. 2009; Accessed: February 16, 2017.
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. [QxMD MEDLINE Link].
Keller C, Keller KR, Shew SB, Plon SE. Growth deficiency and malnutrition in Bloom syndrome. J Pediatr. 1999 Apr. 134 (4):472-9. [QxMD MEDLINE Link].
Passarge E. Bloom’s syndrome. German J, ed. Chromosome Mutation and Neoplasia. New York, NY: Alan R. Liss; 1983. 11–21.
Diaz A, Vogiatzi MG, Sanz MM, German J. Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome. Horm Res. 2006. 66 (3):111-7. [QxMD MEDLINE Link].
Chavez-Alvarez S, Villarreal-Martinez A, Velasco-Campos MDR, Moreno-Vega I, Martinez-de-Villarreal LE, Herz-Ruelas M, et al. Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge. Indian J Dermatol Venereol Leprol. 2019 Jan-Feb. 85 (1):130. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Jian-Bing W, Cheng-Rang L, Yi-Ping M, Nan S, Hui L, Lin L. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. Cutis. 2016 Feb. 97 (2):E10-3. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. 2016 Jun. 55 (6):687-690. [QxMD MEDLINE Link].
Masmoudi A, Marrakchi S, Kamoun H, Chaaben H, Ben Salah G, Ben Salah R, et al. Clinical and laboratory findings in 8 patients with Bloom's syndrome. J Dermatol Case Rep. 2012 Mar 27. 6 (1):29-33. [QxMD MEDLINE Link].
Sanz MM, German J, Cunniff C. Pagon RA, Adam MP, Ardinger HH, et al. GeneReviews® [Internet]. Seattle, Wash: University of Washington; April 7, 2016.
Ozawa T, Kondo N, Motoyoshi F, Kasahara K, Orii T. DNA mutation induced in the sequence upstream of the secreted MYU C-terminal coding sequence by ultraviolet irradiation in the cell line of Bloom's syndrome. Eur J Immunogenet. 1995 Apr. 22 (2):163-9. [QxMD MEDLINE Link].
Draznin M, Robles DT, Nguyen V, Berg D. An unusual case of Bloom syndrome presenting with basal cell carcinoma. Dermatol Surg. 2009 Jan. 35 (1):131-4. [QxMD MEDLINE Link].
Bhisitkul RB, Rizen M. Bloom syndrome: multiple retinopathies in a chromosome breakage disorder. Br J Ophthalmol. 2004 Mar. 88(3):354-7. [QxMD MEDLINE Link]. [Full Text].
Aljarad S, Alhamid A, Rahmeh AR, Alibraheem A, Wafa A, Alachkar W, et al. Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria. Oxf Med Case Reports. 2018 Dec. 2018 (12):omy096. [QxMD MEDLINE Link].
Sultan SJ, Sultan ST. Bloom syndrome in two siblings. Pediatr Dermatol. 2010 Mar-Apr. 27(2):174-7. [QxMD MEDLINE Link].
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.
Cunniff C, Bassetti JA, Ellis NA. Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. Mol Syndromol. 2017 Jan. 8 (1):4-23. [QxMD MEDLINE Link].
Amor-Guéret M. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett. 2006 May 8. 236(1):1-12. [QxMD MEDLINE Link].
German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet. 1997 Jan. 93 (1):100-6. [QxMD MEDLINE Link].
Gruber SB, Ellis NA, Scott KK, Almog R, Kolachana P, Bonner JD, et al. BLM heterozygosity and the risk of colorectal cancer. Science. 2002 Sep 20. 297 (5589):2013. [QxMD MEDLINE Link].
Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, et al. Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res Treat. 2013 Jan. 137 (2):533-9. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Jian-Bing W, Cheng-Rang L, Yi-Ping M, Nan S, Hui L, Lin L. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. Cutis. 2016 Feb. 97 (2):E10-3. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Sanz MM, German J, Cunniff C. Bloom's Syndrome. Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews® [Internet]. University of Washington, Seattle; 2006 Mar 22 [Updated 2019].
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. [QxMD MEDLINE Link].
Cunniff C, Djavid AR, Carrubba S, Cohen B, Ellis NA, Levy CF, et al. Health supervision for people with Bloom syndrome. Am J Med Genet A. 2018 Sep. 176 (9):1872-1881. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Karalis A, Tischkowitz M, Millington GW. Dermatological manifestations of inherited cancer syndromes in children. Br J Dermatol. 2011 Feb. 164 (2):245-56. [QxMD MEDLINE Link].
Oto S, Miyamoto S, Kudoh F, Horie H, Kinugawa N, Okimoto Y. Treatment for B-cell-type lymphoma in a girl associated with Bloom's syndrome. Clin Genet. 1992 Jan. 41 (1):46-50. [QxMD MEDLINE Link].
Jastaniah W. Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome. Pediatr Blood Cancer. 2016 Dec 14. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].

Media Gallery

Crystal structure of the Bloom syndrome helicase BLM in complex with DNA (PDB ID: 4CGZ). Courtesy of Arthur Zalevsky (own work), via Wikimedia Commons.

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Author

Amira M Elbendary, MD, MBBCh, MSc Visiting Dermatopathology Fellow, Ackerman Academy of Dermatopathology; Lecturer, Department of Dermatology, Kasr Alainy University Hospitals, Cairo University, Egypt

Amira M Elbendary, MD, MBBCh, MSc is a member of the following medical societies: Bloom’s Syndrome Association, Egyptian Medical Syndicate, International Dermoscopy Society, Medical Dermatology Society

Disclosure: Nothing to disclose.

Coauthor(s)

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

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

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology

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

Disclosure: Nothing to disclose.

Chief Editor

Additional Contributors

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, Southern Medical Association

Disclosure: Nothing to disclose.

Acknowledgements

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.