Rare Dermatology News

Disease Profile

Alopecia universalis

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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

All ages

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ICD-10

L63.1

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)

Alopecia areata universalis; AU

Categories

Congenital and Genetic Diseases; Immune System Diseases; Skin Diseases

Summary

Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss.[1] Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which the person's immune system mistakenly attacks the hair follicles.[2] An interaction between genetic and environmental factors is thought to play a role in the condition's onset.[3] There is currently no cure for AU, but sometimes hair regrowth occurs on its own, even after many years.[2]

Symptoms

AU is characterized by the complete loss of hair on both the scalp and body. Most people with AU do not have other signs and symptoms, but some may experience a burning or itching sensation. In some cases, AU can be associated with other conditions such as atopic dermatitis, thyroid disorders, and/or nail changes (such as pitting).[4] Anxiety, personality disorders, depression, and paranoid disorders are more common in people with different forms of alopecia areata.[1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Absent eyebrow
Failure of development of eyebrows
0002223
Absent eyelashes
Failure of development of eyelashes
0000561
Alopecia universalis
0002289
Patchy alopecia
Patchy baldness
0002232
Percent of people who have these symptoms is not available through HPO
Alopecia totalis
0007418
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
Multifactorial inheritance
0001426
Nail pits
Nail pitting
Pitted nails

[ more ]

0001803
Trachyonychia
0030804

Cause

The exact cause of AU is unknown. AU is an advanced form of alopecia areata (AA), a condition that leads to round patches of hair loss. The most widely accepted hypothesis is that AA is an autoimmune condition in which a person's immune system mistakenly attacks the hair follicles.[1]

While genetic studies have found that AA and AU are associated with several immune-related genes, they are likely ultimately caused by the interaction of multiple genetic and environmental factors.[3] This means that even if someone inherits a genetic predisposition to the condition (susceptibility), they may not develop the condition unless something in the environment triggers its onset. However, the exact role of environmental factors is yet to be determined. Factors that may trigger the onset or recurrence of hair loss may include a viral infection, trauma, hormonal changes, and emotional or physical stress.[5]

Diagnosis

A diagnosis of AU is usually based on the signs and symptoms present. In rare cases, a scalp biopsy may be needed to confirm the diagnosis.[1]

Treatment

No therapy has been found to work for everyone who has alopecia universalis (AU) which makes managing AU challenging. Although multiple treatments have been explored, no therapy is currently approved by the United States Food and Drug Administration (FDA). Some promising therapies include:[6]

There are several recent studies showing that a class of medication known as JAK inhibitors, which includes Tofacitinib and Ruxolitinib, are effective in alopecia areata, including AU. However, JAK inhibitors have not yet been approved by the FDA for use in skin conditions.[7][8]

In some people with AU, hair regrowth occurs without treatment, sometimes after many years.[9]

There are steps that can be taken to decrease the chance of getting too much sun and minimize other discomforts related to having no hair. These may include:[2]

  • Using sunscreen on the scalp, face, and all areas of the skin exposed to the sun
  • Wearing eyeglasses or sunglasses to protect the eyes from too much sun and from dust and debris when eyebrows or eyelashes are missing
  • Wearing wigs, caps, or scarves to protect the scalp from the sun and keep the head warm
  • Applying an ointment inside the nostrils to keep them moisturized and help to protect against organisms invading the nose when nostril hair is missing

Many other treatments have been reported to have variable response rates in small studies in alopecia areata. These include latanoprost, nitrogen mustard, massage and relaxation, isoprinosine, acupuncture, and aromatherapy, among others.[8]

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 National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        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.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Alopecia universalis. Click on the link to view a sample search on this topic.

          Resources for Kids

            References

            1. Bolduc C. Alopecia Areata. Medscape Reference. May 8, 2017; https://emedicine.medscape.com/article/1069931-overview.
            2. Questions and Answers about Alopecia Areata. NIAMS. May, 2016; https://www.niams.nih.gov/Health_Info/Alopecia_Areata/default.asp.
            3. Lee S., et. al. Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis. PLoS One. 2013; 8(1):
            4. Cho HH, Jo SJ, Paik SH, Jeon HC, Kim KH, Eun HC, Kwon OS. Clinical characteristics and prognostic factors in early-onset alopecia totalis and alopecia universalis. J Korean Med Sci. July, 2012; 27(7):799-802. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3390731/.
            5. Oakley A. Alopecia areata. DermNet NZ. December, 2015; https://www.dermnetnz.org/topics/alopecia-areata/.
            6. Kassira S, Korta DZ, W Chapman L, Dann F. Review of treatment for alopecia totalis and alopecia universalis. Int J Dermatol. April 5, 2017; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/28378336.
            7. Frellick M. JAK Inhibitors Show Promise for Alopecia, Eczema, Vitiligo. American Academy of Dermatology (AAD) Annual Meeting. . Disponible en:. March 07, 2017; https://www.medscape.com/viewarticle/876855.
            8. Bolduc C. Alopecia Areata Treatment & Management. Medscape Reference. May 8, 2017; https://emedicine.medscape.com/article/1069931-treatment#d11.
            9. Treatments for Alopecia Areata. National Alopecia Areata Foundation. 2017; https://www.naaf.org/site/PageServer?pagename=about_alopecia_treatment.
            10. Prevalence and incidence of rare diseases: Bibliographic data. Orphanet Report Series. June, 2017; 1:7. https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf.
            11. Pratt CH, King, Jr. LE, Messenger AG, Christiano AM, Sundberg JP. Alopecia areata. Nat Rev Dis Primers. March 16, 2017; 3:https://www.nature.com/articles/nrdp201711.
            12. Nucara S, Colao E, Mangone G, et. al. Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing. Dermatology Online J. January 15, 2011; 17(1):3. https://www.ncbi.nlm.nih.gov/pubmed/21272494.

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