Rare Hematology News

Disease Profile

Genuine diffuse phlebectasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Bockenheimer syndrome

Categories

Blood Diseases; Congenital and Genetic Diseases; Skin Diseases

Summary

Genuine diffuse phlebectasia or Bockenheimer's syndrome is a very rare condition characterized by an extensive venous malformation involving all veins, including the smallest ones, on the arms and legs. It is present at birth (congenital) and is progressive during life.[1][2] The venous dilatation can be seen beneath the skin on the arms and legs. It is more common on a single arm and hand but may occur on both sides. The involved arm or leg may be thicker than the normal one.[1] Pain, swelling, muscle wasting, and ulceration can occur.[1][2] The cause is unknown.  Treatment may include surgery, embolization, and elastic stockings.[1]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Osawa R, Kato N, Yanagi T & Yamane N. A case of Bockenheimer's syndrome (genuine diffuse phlebectasia): venous involvement inside muscles was detected by magnetic resonance imaging. Clin Exp Dermatol. November, 2007; 32(6):664-71. https://www.ncbi.nlm.nih.gov/pubmed/17953636.
  2. Kubiena, H. F., Liang, M. G. and Mulliken, J. B. Genuine Diffuse Phlebectasia of Bockenheimer: Dissection of an Eponym. Pediatric Dermatology. 2006; 23:294–297. https://www.ncbi.nlm.nih.gov/pubmed/16780484.