Bloom Syndrome (Congenital Telangiectatic Erythema) Questions & Answers

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

Overview

What is Bloom syndrome (congenital telangiectatic erythema)?

What is the pathophysiology of Bloom syndrome (congenital telangiectatic erythema)?

What causes Bloom syndrome (congenital telangiectatic erythema)?

What is the prevalence of Bloom syndrome (congenital telangiectatic erythema) in the US?

What is the global prevalence of Bloom syndrome (congenital telangiectatic erythema)?

What are the racial predilections of Bloom syndrome (congenital telangiectatic erythema)?

What are the sexual predilections of Bloom syndrome (congenital telangiectatic erythema)?

At what age does Bloom syndrome (congenital telangiectatic erythema) typically present?

What is the prognosis of Bloom syndrome (congenital telangiectatic erythema)?

Presentation

Which clinical history findings are characteristic of Bloom syndrome (congenital telangiectatic erythema)?

Which physical findings are characteristic of Bloom syndrome (congenital telangiectatic erythema)?

How does Bloom syndrome (congenital telangiectatic erythema) affect prenatal and postnatal growth?

Which GI findings are characteristic of Bloom syndrome (congenital telangiectatic erythema)?

Which cutaneous findings are characteristic of Bloom syndrome (congenital telangiectatic erythema)?

Which facial features are characteristic of Bloom syndrome (congenital telangiectatic erythema)?

Which ocular findings are characteristic of Bloom syndrome (congenital telangiectatic erythema)?

Which musculoskeletal findings are characteristic of Bloom syndrome (congenital telangiectatic erythema)?

How does Bloom syndrome (congenital telangiectatic erythema) affect fertility?

Which immunologic findings are characteristic of Bloom syndrome (congenital telangiectatic erythema)?

What is the risk of malignancy in patients with Bloom syndrome (congenital telangiectatic erythema)?

Which co-morbidities of Bloom syndrome (congenital telangiectatic erythema)?

What are the possible complications of Bloom syndrome (congenital telangiectatic erythema)?

DDX

How is Cockayne syndrome differentiated from Bloom syndrome (congenital telangiectatic erythema)?

How is Rothmund-Thomson syndrome differentiated from Bloom syndrome (congenital telangiectatic erythema)?

How is lupus erythematosus differentiated from Bloom syndrome (congenital telangiectatic erythema)?

How is erythropoietic protoporphyria differentiated from Bloom syndrome (congenital telangiectatic erythema)?

What are the differential diagnoses for Bloom Syndrome (Congenital Telangiectatic Erythema)?

Workup

How is Bloom syndrome diagnosed?

What is the role of lab tests in the workup of Bloom syndrome (congenital telangiectatic erythema)?

How is Bloom syndrome (congenital telangiectatic erythema) diagnosed prenatally?

When is genetic screening and counseling indicated for Bloom syndrome (congenital telangiectatic erythema)?

How are patients with Bloom syndrome (congenital telangiectatic erythema) screened for complications?

How is photosensitivity assessed in Bloom syndrome (congenital telangiectatic erythema)?

Which histologic findings are characteristic of Bloom syndrome (congenital telangiectatic erythema)?

Treatment

How is Bloom syndrome (congenital telangiectatic erythema) treated?

What are the dermatologic treatments for Bloom syndrome (congenital telangiectatic erythema)?

What should parents and teachers be educated about Bloom syndrome (congenital telangiectatic erythema)?

What is the role of growth hormones in the treatment of Bloom syndrome (congenital telangiectatic erythema)?

Which dietary modifications are used in the treatment of Bloom syndrome (congenital telangiectatic erythema)?

What is included in the long-term monitoring of Bloom syndrome (congenital telangiectatic erythema)?

What is the role of surgery in the treatment of Bloom syndrome (congenital telangiectatic erythema)?

Which specialist consultations are beneficial to patients with Bloom syndrome (congenital telangiectatic erythema)?

How does Bloom syndrome (congenital telangiectatic erythema) affect pregnancy outcomes?