Rare Dermatology News

Disease Profile

Albinism

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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Categories

Congenital and Genetic Diseases

Summary

Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. Other symptoms can include light skin or changes in skin color; very white to brown hair; very light blue to brown eye color that may appear red in some light and may change with age; sensitivity to sun exposure; and increased risk of developing skin cancer.[1][2] Albinism is caused by mutations in one of several genes, and most types are inherited in an autosomal recessive manner.[1][3] Although there's no cure, people with the disorder can take steps to improve vision and avoid too much sun exposure.[1][2][3]

Treatment

The goal of treatment is to address the symptoms present in each individual. People with albinism should protect their skin and eyes from the sun. This can be done by:[2][3] 

  • avoiding prolonged exposure to the sun,
  • using sunscreen with a high SPF rating (20 or higher),
  • covering up completely with clothing when exposed to the sun, and
  • wearing sunglasses with UV protection.

Individuals with vision problems may need corrective lenses. They should also have regular follow-up exams with an ophthalmologist. In rare cases, surgery may be needed. Individuals with albinism should also have regular skin assessments to screen for skin cancer or lesions that can lead to cancer.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      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.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
      • A Positive Exposure program called FRAME has an educational film about albinism that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Albinism. Click on the link to view a sample search on this topic.

          References

          1. Albinism. Mayo Clinic. April 19, 2014; https://www.mayoclinic.org/diseases-conditions/albinism/basics/definition/con-20029935.
          2. Haldeman-Englert C, Zieve D. Albinism. MedlinePlus. October 27, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/001479.htm.
          3. Information Bulletin What is Albinism?. NOAH. 2015; https://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9253761/k.24EE/Information_Bulletin__What_is_Albinism.htm.
          4. Ocular Albinism. Genetics Home Reference. July 2007; https://ghr.nlm.nih.gov/condition/ocular-albinism.
          5. Bashour M. Albinism. Medscape Reference. March 22, 2015; https://emedicine.medscape.com/article/1200472-overview.

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