Darier Disease

Common Name(s)

Darier Disease, Keratosis follicularis

Darier disease is an inherited skin condition characterized by wart-like blemishes on the body usually located on the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. 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 severity of the disease varies over time. A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin.  Darier disease is not an infection and the blemishes are not contagious. Symptoms usually first appear in late childhood or early adulthood. This condition is caused by mutations in the ATP2A2 gene and inherited in an autosomal dominant fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Darier Disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Darier Disease" returned 32 free, full-text research articles on human participants. First 3 results:

A case of segmental Darier disease treated with doxycycline monotherapy.
 

Author(s): Cory Pettit, Catherine A Ulman, Gina Spohn, Jessica Kaffenberger

Journal:

 

Darier disease is a rare autosomal dominant disorder that results from a mutation in the gene coding for the endoplasmic reticulum membrane calcium pump Ca2+-ATPase type 2 (SERCA2), leading to compromised intercellular adhesion. Patients typically present in the first two decades ...

Last Updated: 31 Dec 1969

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Novel mutations in Darier disease and association to self-reported disease severity.
 

Author(s): Ivone U S Leong, Alexander Stuckey, Tara Ahanian, Martin Cederlöf, Jakob D Wikstrom

Journal:

 

Darier disease is a rare and severe autosomal dominant skin disease characterised by malodorous keratotic papules in seborrheic areas of the skin. Darier disease affects up to 1 in 30 000 people and is caused by mutations in the ATP2A2 gene, which encodes to the sarco/endoplasmic ...

Last Updated: 31 Dec 1969

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Rare ocular manifestations in keratosis follicularis (Darier-White disease).
 

Author(s): Savitha H Kanakpur, Divya Upendra Caculo

Journal: Indian J Ophthalmol. 2017 Sep;65(9):874-876.

 

Keratosis follicularis (Darier's disease) is a rare (1 in 30,000-100,000) genetic autosomal-dominant predominantly dermatological disorder characterized by hyperkeratosis and acantholysis due to a defective calcium transport in the cells. Ocular findings, if present, are very rare ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Darier Disease" returned 2 free, full-text review articles on human participants. First 3 results:

An ATP2A2 Missense Mutation in a Japanese Family with Darier Disease: A Case Report and Review of the Japanese Darier Disease Patients with ATP2A2 Mutations.
 

Author(s): Min Li, Naoyuki Higashi, Hajime Nakano, Hidehisa Saeki

Journal: J Nippon Med Sch. 2017 ;84(5):246-250.

 

Darier disease (DD) is a rare autosomal dominant skin disorder due to mutations in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum Ca ATPase isoform 2 (SERCA2). The clinical manifestations of DD are characterized by warty papules and plaques in seborrheic areas, and association ...

Last Updated: 31 Dec 1969

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Darier disease : a disease model of impaired calcium homeostasis in the skin.
 

Author(s): Magali Savignac, Anissa Edir, Marina Simon, Alain Hovnanian

Journal: Biochim. Biophys. Acta. 2011 May;1813(5):1111-7.

 

The importance of extracellular calcium in epidermal differentiation and intra-epidermal cohesion has been recognized for many years. Darier disease (DD) was the first genetic skin disease caused by abnormal epidermal calcium homeostasis to be identified. DD is characterized by loss ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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