Other Names for this Disease
- Darier White Disease
- Darier's disease
- Keratosis follicularis
What causes Darier disease?
How is Darier disease inherited?
Is genetic testing available for Darier disease?
How is Darier disease diagnosed?
How might Darier disease be treated?
A person can have a mutation in the ATP2A2 gene for different reasons. In some cases, an individual with Darier disease inherits the mutation from one affected parent. Other cases may result from a new mutations (called de novo) in the gene. These cases occur in people with no history of the disorder in their family. The linear form of Darier disease is generally not inherited but arises from random mutations in the body's cells that occur after conception. These alterations are called somatic mutations.
Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
The affected skin may smell unpleasant, particularly in moist areas. The smell is part of the skin condition and does not mean that the skin is dirty. It is probably caused by bacteria growing in the rash. When bacterial overgrowth is suspected or crusting is prominent, application of antiseptics such as triclosan or soaks in astringents such as Burrow or Domeboro solution can be helpful. 
Topical medication may include topical retinoids (i.e., adapalene, tazarotene gel, or tretinoin). Recent studies have shown that topical retinoids can reduce hyperkeratosis in 3 months. However, irritation is a side effect. Other medication may include Acitretin, Isotretinoin, Ciclosporine, or oral retinoids (eg, acitretin, isotretinoin). Oral retinoids have been the most effective medical treatment for Darier disease, achieving some reduction of symptoms in 90% of affected individuals. However prolonged use is limited by their significant adverse effects. Other treatments may include oral antibiotics to clear bacterial infection, oral acyclovir to treat or suppress herpes simplex virus infection, dermabrasion (sanding off the surface of the skin) to smooth the hyperkeratotic lesions, electrosurgery and Mohs micrographic surgery to treat localized areas. Carbon dioxide laser ablation, Er:YAG laser, and photodynamic therapy have also been tried with some success.
- Darier disease. Genetic Home Reference. March 2008; http://ghr.nlm.nih.gov/condition=darierdisease. Accessed 9/14/2011.
- Kwok PY, Fitzmaurice S. Darier disease. eMedicine. 2009; http://emedicine.medscape.com/article/1107340-overview. Accessed 7/18/2011.
- Stanway A. Darier Disease. DermNet NZ. March 2011; http://www.dermnetnz.org/scaly/darier.html. Accessed 7/11/2011.
- What is Darier disease?. The Darier Disease Resource Site. http://dariers.50.forumer.com. Accessed 7/13/2011.
- 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;