Darier's disease
Encyclopedia
Darier's disease also known as Darier disease, Darier–White disease, Dyskeratosis follicularis and Keratosis follicularis, is an autosomal
dominant disorder discovered by French dermatologist
Ferdinand-Jean Darier
. Darier's is characterized by dark crusty patches on the skin, sometimes containing pus
. The crusty patches are also known as keratotic papule
s, keratosis follicularis or dyskeratosis follicularis.
filament complex leading to a breakdown in cell adhesion.
It most commonly affects the chest, neck, back, ears, forehead, and groin, but may involve other body areas. The rash associated with Darier's disease often has a distinct odor. Palms & soles may become thickened, intra oral papules can be found. Finger nails become fragile and this helps in diagnosis of the disease. The rash can be aggravated by heat, humidity, and exposure to sunlight. In some cases, sunlight makes it better, especially in the forehead.
Minor forms of the disease are the most common, and may remain undiagnosed throughout life. These consist mainly of minor rashes without odor that are aggravated by heat, humidity, stress and sunlight. Poorly formed fingernails containing vertical striations are diagnostic.
A recent study examined neuropsychiatric conditions in a non-random sample of 100 British individuals assessed as having DAR. There were high lifetime rates for mood disorders (50%), including depression (30%), bipolar disorder (4%), suicidal thoughts (31%) and suicide attempts (13%), suggesting a possible common genetic link. Scattered case studies also suggest a possible link to learning disorders (not yet confirmed).
DAR is inherited in an autosomal dominant manner, which indicates that the defective gene responsible for a disorder is located on an autosome
, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
The disorder is caused by a mutation in the gene
ATP2A2
. Family members with confirmed identical ATP2A2 mutations can exhibit differences in the clinical severity of disease, suggesting that other genes or environmental factors affect the expression of Darier's disease. With the discovery of the ATP2A2 gene, performing genetic tests to confirm the diagnosis of Darier's disease is now possible.
and prescription-only topical corticosteroids, eg, betamethasone, have been used during acute flares. Some patients are able to prevent flares with use of topical sunscreens and oral vitamin C
.
For minor forms, no specific treatment is required, but avoidance of excessive heat, humidity, stress and tight-fitting clothes (and general cleanliness) is advised. Topical creams (as above) are occasionally required to deal with flare-ups.
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
dominant disorder discovered by French dermatologist
Dermatology
Dermatology is the branch of medicine dealing with the skin and its diseases, a unique specialty with both medical and surgical aspects. A dermatologist takes care of diseases, in the widest sense, and some cosmetic problems of the skin, scalp, hair, and nails....
Ferdinand-Jean Darier
Ferdinand-Jean Darier
Ferdinand-Jean Darier was a French physician, pathologist and dermatologist called the "father of modern dermatology in France".-Medical:...
. Darier's is characterized by dark crusty patches on the skin, sometimes containing pus
Pus
Pus is a viscous exudate, typically whitish-yellow, yellow, or yellow-brown, formed at the site of inflammatory during infection. An accumulation of pus in an enclosed tissue space is known as an abscess, whereas a visible collection of pus within or beneath the epidermis is known as a pustule or...
. The crusty patches are also known as keratotic papule
Papule
A papule is a circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to 1 cm.With regard to the quote "...varying in size from a pinhead to 1cm," depending on which text is referenced, some authors state the cutoff between a papule and a plaque as 0.5cm,...
s, keratosis follicularis or dyskeratosis follicularis.
Characteristics
DAR affects both men and women and is not contagious. The disease often starts during or later than the teenage years, typically by the third decade. Short stature is common. The prevalence is estimated as between 1: 30,000 and 1: 100,000. The symptoms of the disease are thought to be caused by an abnormality in the desmosome-keratinIntermediate filament
Intermediate filaments are a family of related proteins that share common structural and sequence features. Intermediate filaments have an average diameter of 10 nanometers, which is between that of 7 nm actin , and that of 25 nm microtubules, although they were initially designated...
filament complex leading to a breakdown in cell adhesion.
It most commonly affects the chest, neck, back, ears, forehead, and groin, but may involve other body areas. The rash associated with Darier's disease often has a distinct odor. Palms & soles may become thickened, intra oral papules can be found. Finger nails become fragile and this helps in diagnosis of the disease. The rash can be aggravated by heat, humidity, and exposure to sunlight. In some cases, sunlight makes it better, especially in the forehead.
Minor forms of the disease are the most common, and may remain undiagnosed throughout life. These consist mainly of minor rashes without odor that are aggravated by heat, humidity, stress and sunlight. Poorly formed fingernails containing vertical striations are diagnostic.
A recent study examined neuropsychiatric conditions in a non-random sample of 100 British individuals assessed as having DAR. There were high lifetime rates for mood disorders (50%), including depression (30%), bipolar disorder (4%), suicidal thoughts (31%) and suicide attempts (13%), suggesting a possible common genetic link. Scattered case studies also suggest a possible link to learning disorders (not yet confirmed).
Genetics
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
The disorder is caused by a mutation in the gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
ATP2A2
ATP2A2
ATP2A2 is an ATPase associated with Darier's disease and Acrokeratosis verruciformis.This gene encodes one of the SERCA Ca-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells...
. Family members with confirmed identical ATP2A2 mutations can exhibit differences in the clinical severity of disease, suggesting that other genes or environmental factors affect the expression of Darier's disease. With the discovery of the ATP2A2 gene, performing genetic tests to confirm the diagnosis of Darier's disease is now possible.
Treatment
Treatment of choice for severe cases is oral retinoids. During flares, topical or oral antibiotics may be administered. CiclosporinCiclosporin
Ciclosporin , cyclosporine , cyclosporin , or cyclosporin A is an immunosuppressant drug widely used in post-allogeneic organ transplant to reduce the activity of the immune system, and therefore the risk of organ rejection...
and prescription-only topical corticosteroids, eg, betamethasone, have been used during acute flares. Some patients are able to prevent flares with use of topical sunscreens and oral vitamin C
Vitamin C
Vitamin C or L-ascorbic acid or L-ascorbate is an essential nutrient for humans and certain other animal species. In living organisms ascorbate acts as an antioxidant by protecting the body against oxidative stress...
.
For minor forms, no specific treatment is required, but avoidance of excessive heat, humidity, stress and tight-fitting clothes (and general cleanliness) is advised. Topical creams (as above) are occasionally required to deal with flare-ups.
- benzoyl peroxideBenzoyl peroxideBenzoyl peroxide is an organic compound in the peroxide family. It consists of two benzoyl groups bridged by a peroxide link. Its structural formula is [C6H5C]2O2. It is one of the most important organic peroxides in terms of applications and the scale of its production...
External links
- Photos at skinsite.com