National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Darier disease


Other Names:
Darier White Disease; Darier's disease; Keratosis follicularis
Categories:
Darier disease is an inherited skin condition characterized by wart-like blemishes on the body. They usually first appear in late childhood or early adulthood and often occur on the scalp, forehead, upper arms, chest, back, knees, elbows, and/or behind the ear. Other features of Darier disease may include nail abnormalities, such as red and white streaks in the nails with an irregular texture; and small pits in the palms of the hands and soles of the feet. The severity of the disease varies over time. Some people have a more localized form of the disease known as the linear or segmental form. Darier disease is not an infection and the blemishes are not contagious. It is caused by mutations in the ATP2A2 gene and is inherited in an autosomal dominant manner.[1] However, not all people with a mutation in this gene will develop the disease. Treatment is not always needed but may include the use of moisturizers and sunscreen; staying cool; dermabrasion; and/or oral or topical retinoids.[2]
Last updated: 11/29/2016

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Acrokeratosis 0200016
Hypermelanotic macule
Hyperpigmented spots
0001034
Pruritus
Itching
Itchy skin
Skin itching
[ more ] 		0000989
Subungual hyperkeratotic fragments 0008410
30%-79% of people have these symptoms
Abnormal hair morphology
Abnormality of the hair
Hair abnormality
[ more ] 		0001595
Anal mucosal leukoplakia 0005212
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Plantar pits 0010612
5%-29% of people have these symptoms
Skin vesicle 0200037
Percent of people who have these symptoms is not available through HPO
Acantholysis 0100792
Autosomal dominant inheritance 0000006
Bipolar affective disorder
Bipolar disorder
0007302
Enlargement of parotid gland 0011801
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Palmar pits 0010610
Ridged nail
Grooved nails
Nail ridging
[ more ] 		0001807
Schizophrenia 0100753
Seizure 0001250
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Last updated: 7/1/2020
Darier disease is caused by mutations in the ATP2A2 gene. This gene gives the body instructions to make an enzyme known as SERCA2. This enzyme helps control the level of calcium ions inside cells. Calcium ions act as signals for many cell functions needed for normal development.

Mutations in the ATP2A2 gene affect the amount or function of the SERCA2 enzyme. This enzyme is expressed throughout the body, and it is unclear why mutations in this gene affect only the skin.

The linear form of Darier disease is also caused by ATP2A2 gene mutations, but these mutations are acquired and arise in only some body cells after conception (somatic mutations).[1]
Last updated: 11/29/2016
Darier disease is inherited in an autosomal dominant manner.[1][3] This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause symptoms of the disease.[1] In some cases, a person inherits the mutated copy of the gene from a parent. In other cases, the mutation occurs for the first time in a person with no family history of Darier disease. While most people with a mutation develop symptoms, a small proportion of people do not.[1]

When a person with a mutated gene that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene.

The linear form of the disease is typically not inherited and is due to acquired mutations that arise in only some cells of the body, after conception. These are called somatic mutations.[1]

Last updated: 11/29/2016
Darier disease is usually diagnosed by the appearance of the skin and the family history. It may be mistaken for other skin conditions. The diagnosis may require a skin biopsy.[2] Genetic testing to identify a mutation in the ATP2A2 gene can be used to confirm the diagnosis.[3]
Last updated: 12/15/2015

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Basic measures to manage Darier disease may include using sunscreen, wearing cool cotton clothing, and avoiding hot environments. Moisturizers with urea or lactic acid can reduce scaling. A low- or mid-potency topical steroid is sometimes useful for inflammation.[3]

The affected skin may smell unpleasant, which may be due to bacteria growing in the rash. If bacterial overgrowth is suspected or there is a lot of crusting, it can be helpful to apply antiseptics or soak in astringents.[3]

Topical medications may include topical retinoids (i.e., adapalene, tazarotene gel, or tretinoin). Topical retinoids may reduce hyperkeratosis within 3 months. However, irritation is a side effect.[3] Other medications may include acitretin, isotretinoin, cyclosporine, or oral retinoids (eg, acitretin, isotretinoin). Oral retinoids have been the most effective medical treatment for Darier disease, leading to reduction of symptoms in 90% of affected people. However, prolonged use is limited due to adverse effects.

Other treatments may include oral antibiotics to clear bacterial infection, oral acyclovir to treat or suppress herpes simplex virus infection; dermabrasion; electrosurgery; and Mohs micrographic surgery for localized areas.[4]

Last updated: 3/6/2014

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Hailey-Hailey disease, pemphigus and warty dyskeratoma (see these terms), as well as transient acantholytic dermatosis.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Darier disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Foundation for Ichthyosis and Related Skin Types has funded ichthyosis-related research through its Research Grant Program.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Darier disease. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Darier disease:
    The National Registry for Ichthyosis & Related Skin Disorders
     

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

Social Networking Websites

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.
  • Genetics Home Reference (GHR) contains information on Darier disease. This website is maintained by the National Library of Medicine.
  • 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 Darier disease. Click on the link to view a sample search on this topic.

Diagrams/Images

  • You can read more about Darier disease and see images of the skin lesions on DermNet, the website of the New Zealand Dermatological Society Incorporated. DermNet provides facts about the skin for consumers and health professionals.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Darier disease. Genetics Home Reference. March 2008; https://ghr.nlm.nih.gov/condition/darier-disease. Accessed 11/29/2016.
  2. Amy Stanway. Darier disease. DermNet NZ. October 18, 2015; http://www.dermnetnz.org/scaly/darier.html.
  3. Kwok PY, Fitzmaurice S. Darier disease. Medscape Reference. June 3, 2016; http://emedicine.medscape.com/article/1107340-overview. Accessed 11/29/2016.
  4. Goldsmith, Lowell A., Baden, Howard P.. Darier-White Disease (Keratosis Follicularis) and Acrokeratosis Verruciformis. In: edited by Freedberg, Eisen, Wolff, Austen, Goldsmith and Katz. Fitzpatrick's Dermatology in General Medicine, 6th edition. McGraw Hill Companies; 2003;