Bloom Syndrome (Congenital Telangiectatic Erythema) Treatment & Management

Updated: Apr 15, 2019
  • Author: Amira M Elbendary, MD, MBBCh, MSc; Chief Editor: Dirk M Elston, MD  more...
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Medical Care

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


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]


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 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.


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.


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.



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. [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.