Rare Pulmonology News
Disease Profile
Bier spots
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Physiologic anaemic macules; Angiospastic macules; Exaggerated physiologic speckled mottling of skin
Summary
Bier spots are a benign vascular anomaly characterized by white spots on the skin surrounded by a pale halo of erythema (redness). They are more common on the arms, the legs and the trunk. They are better observed when a tourniquet is placed around the affected arm or leg, and become less obvious when raising it.[1][2] The spots are thought to be due to raised pressure constricting small veins (venous
References
- Liaw FY & Chiang CP. Bier spots. CMAJ. April 16, 2013; 185(7):https://www.cmaj.ca/content/185/7/E304.full.
- Mahajan VK, Khatri G, Singh R, Chauhan PS & Mehta KS. Bier spots: An uncommon cause of mottled skin. Indian Dermatology Online Journal. 2015; 6(2):128–129. https://doi.org/10.4103/2229-5178.153020.
- Vascular malformations associated with steal phenomena. DermNet NZ. 2015; https://www.dermnetnz.org/vascular/steal.html.