Rare Medical News

Disease Profile

Alezzandrini syndrome

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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Summary

Alezzandrini syndrome is a very rare syndrome characterized by retinitis pigmentosa (breakdown and loss of cells in the retina—which is the light sensitive tissue that lines the back of the eye), whitish patches in the skin (vitiligo) and whitening of eyebrow and eyelashes (poliosis) all on the same side of the face.[1][2] It is very similar to Vogt-Koyanagi-Harada syndrome. Other reported signs and symptoms may include vision loss and retinal detachment, a patch of white hair in the scalp, a café-u-lait spot on the neck, and hearing loss, again, all on the same side as the affected eye.[1][2][3] The cause is unknown, but may be related to viral infections or autoimmune processes. Medical care includes eye exams, hearing tests and treatment for the vitiligo skin lesions.[3]

References

  1. Gupta M, Pande D, Lehl SS, & Sachdev A. Alezzandrini syndrome. BMJ Case Reports. 2011; 17:2011. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171053/.
  2. Andrade A &Pithon M. Alezzandrini syndrome: report of a sixth clinical case. Dermatology. 2011; 222:8–9. https://www.karger.com/Article/Pdf/321714.
  3. Janniger CK. Alezzandrini syndrome. Medscape Reference. October, 2015; https://emedicine.medscape.com/article/1117255-overview.