Bloom syndrome: Difference between revisions

Jump to navigation Jump to search
Line 38: Line 38:
* Chronic lung problems
* Chronic lung problems
* [[Diabetes]]
* [[Diabetes]]
* [[Intrauterine death]]
* [[Intrauterine growth retardation]]


==Diagnosis==
==Diagnosis==

Revision as of 20:22, 4 August 2012

Bloom syndrome
ICD-9 757.39
OMIM 210900
DiseasesDB 1505
MeSH D001816

WikiDoc Resources for Bloom syndrome

Articles

Most recent articles on Bloom syndrome

Most cited articles on Bloom syndrome

Review articles on Bloom syndrome

Articles on Bloom syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Bloom syndrome

Images of Bloom syndrome

Photos of Bloom syndrome

Podcasts & MP3s on Bloom syndrome

Videos on Bloom syndrome

Evidence Based Medicine

Cochrane Collaboration on Bloom syndrome

Bandolier on Bloom syndrome

TRIP on Bloom syndrome

Clinical Trials

Ongoing Trials on Bloom syndrome at Clinical Trials.gov

Trial results on Bloom syndrome

Clinical Trials on Bloom syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Bloom syndrome

NICE Guidance on Bloom syndrome

NHS PRODIGY Guidance

FDA on Bloom syndrome

CDC on Bloom syndrome

Books

Books on Bloom syndrome

News

Bloom syndrome in the news

Be alerted to news on Bloom syndrome

News trends on Bloom syndrome

Commentary

Blogs on Bloom syndrome

Definitions

Definitions of Bloom syndrome

Patient Resources / Community

Patient resources on Bloom syndrome

Discussion groups on Bloom syndrome

Patient Handouts on Bloom syndrome

Directions to Hospitals Treating Bloom syndrome

Risk calculators and risk factors for Bloom syndrome

Healthcare Provider Resources

Symptoms of Bloom syndrome

Causes & Risk Factors for Bloom syndrome

Diagnostic studies for Bloom syndrome

Treatment of Bloom syndrome

Continuing Medical Education (CME)

CME Programs on Bloom syndrome

International

Bloom syndrome en Espanol

Bloom syndrome en Francais

Business

Bloom syndrome in the Marketplace

Patents on Bloom syndrome

Experimental / Informatics

List of terms related to Bloom syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

Bloom syndrome is a rare inherited disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes .[1]

Historical Perspective

Bloom syndrome was discovered and first described by dermatologist Dr. David Bloom in 1954

Pathophysiology

Genetics

Mutations in the BLM gene (locus 15q26.1) cause Bloom syndrome. The BLM gene provides instructions for producing a protein called the Bloom (BLM) syndrome protein, which is a member of the DNA helicase family. DNA helicases are enzymes that unwind the two spiral strands of a DNA molecule so that they can be copied. When a cell prepares to divide to form two cells, the chromosomes are duplicated so that each new cell will get a complete set of chromosomes; this replication process involves unwinding the DNA so that it can be copied.

The BLM protein is important in maintaining the stability of the DNA during this process. Mutations in the BLM gene alter or reduce the BLM protein's DNA helicase activity, which causes errors in the copying process during replication. As a result, people with Bloom syndrome have a higher frequency of chromosome breakage and rearrangement than unaffected people. This increase in chromosome breakage and rearrangement leads to the signs and symptoms of Bloom syndrome. Another suggestion put forward is that persons with Bloom syndrome overproduce the superoxide anion, whose volatility damages the affected person's chromosomes.

Bloom syndrome is inherited in an autosomal recessive fashion. Both parents must be carriers in order for a child to be affected. The carrier frequency in individuals of Eastern European ancestry is about 1/100. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of Bloom syndrome.

Natural History, Complications and Prognosis

  • Chromosomal instability in Bloom syndrome results in a high risk of cancer in affected individuals. Affected individuals develop the full range of cancers found in the general population, but the cancers arise unusually early in life. People with Bloom syndrome may be first diagnosed with cancer at about 25 years old.
  • Patients with Bloom syndrome are also higher risk for immune deficiency.
  • Chronic lung problems
  • Diabetes
  • Intrauterine death
  • Intrauterine growth retardation

Diagnosis

Symptoms

Common symptoms experienced by patients with Bloom syndrome include:

Physical Examination

Appearance of the patient

  • People with Bloom syndrome are much smaller than average, and often have a high-pitched voice.

Skin

  • They tend to develop pigmentation changes and dilated blood vessels in the skin, particularly in response to sun exposure. These changes often appear as a butterfly-shaped patch of reddened skin on the face. The skin changes may also affect the hands and arms.

Head

Ear

  • Prominent ears

Nose

  • Prominent nose

Extremities

Neurologic

  • Mental retardation

Laboratory Findings

See also

References

  1. Bloom D (1954). "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity". A.M.A. American journal of diseases of children. 88 (6): 754–8. PMID 13206391.

External links

Template:Congenital malformations and deformations of integument

de:Bloom-Syndrom it:Sindrome di Bloom nl:Syndroom van Bloom sr:Блумов синдром fi:Bloomin oireyhtymä


Template:WikiDoc Sources