Darier disease

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Other Names:

Darier White Disease; Darier's disease; Keratosis follicularis

Categories:

Congenital and Genetic Diseases; Skin Diseases

Summary Summary

Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mucous membranes can also be affected, with blemishes on the roof of the mouth (palate), tongue, inside of the cheek, gums, and throat. Other features of Darier disease 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 wart-like blemishes characteristic of Darier disease usually appear in late childhood to early adulthood. The severity of the disease varies over time; affected people experience flare-ups alternating with periods when they have fewer blemishes.

The appearance of the blemishes is influenced by environmental factors. Most people with Darier disease will develop more blemishes during the summertime when they are exposed to heat and humidity. UV light; minor injury or friction, such as rubbing or scratching; and ingestion of certain medications can also cause an increase in blemishes. On occasion, people with Darier disease may have neurological disorders such as mild intellectual disability, epilepsy, and depression. Learning and behavior difficulties have also been reported in people with Darier disease. Researchers do not know if these conditions, which are common in the general population, are associated with the genetic changes that cause Darier disease, or if they are coincidental. Some researchers believe that behavioral problems might be linked to the social stigma experienced by people with numerous skin blemishes.

A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin. The blemishes are not as widespread as they are in typical Darier disease. Some people with the linear form of this condition have the nail abnormalities that are seen in people with classic Darier disease, but these abnormalities occur only on one side of the body.

This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.

Last updated: 11/30/2020

Symptoms Symptoms

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.

Showing of 18 |

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

Showing of 18 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Cause Cause

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

Inheritance Inheritance

Darier disease is inherited in an autosomal dominant manner.^[1]^[2] 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

Diagnosis Diagnosis

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.^[3] Genetic testing to identify a mutation in the ATP2A2 gene can be used to confirm the diagnosis.^[2]

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.

Treatment Treatment

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.^[2]

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.^[2]

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.^[2] 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

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases

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 Research

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

Organizations 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

Foundation for Ichthyosis and Related Skin Types (FIRST)
2616 North Broad Street
Colmar, PA 18915
Toll-free: 1-800-545-3286
Telephone: +1-215-997-9400
E-mail: info@firstskinfoundation.org
Website: http://www.firstskinfoundation.org/

Social Networking Websites

Visit the following Facebook groups related to Darier disease:
Darier's Disease
Darier's Disease Unite

Do you know of an organization? We want to hear from you.

Learn More 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 Genetics 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.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

GARD Answers GARD Answers

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References References

Darier disease. Genetics Home Reference. March 2008; https://ghr.nlm.nih.gov/condition/darier-disease. Accessed 11/29/2016.
Kwok PY, Fitzmaurice S. Darier disease. Medscape Reference. June 3, 2016; http://emedicine.medscape.com/article/1107340-overview. Accessed 11/29/2016.
Amy Stanway. Darier disease. DermNet NZ. October 18, 2015; http://www.dermnetnz.org/scaly/darier.html.
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;