Darier's disease

Darier's disease
Darier's disease
Classification and external resources

Linear Darier's disease
ICD-10 Q82.8 (ILDS Q82.868)
ICD-9 757.39
OMIM 124200
DiseasesDB 3467
eMedicine derm/209
MeSH D007644

Darier's disease (DAR), also known as Darier disease, Darier–White disease,[1] Dyskeratosis follicularis[1] and Keratosis follicularis,[2]:523[3]:567 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 papules, keratosis follicularis or dyskeratosis follicularis.[4][5]

Contents

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-keratin 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.[6] Scattered case studies also suggest a possible link to learning disorders (not yet confirmed).

Genetics

Darier's disease has an autosomal dominant pattern of inheritance.

DAR is inherited in an autosomal dominant manner,[7] 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.[7] 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. Ciclosporin 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.[8]

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.

See also

References

  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
  3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
  4. ^ National Organization for Rare Disorders (2002). NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. ISBN 0781730635. 
  5. ^ Sehgal, V. N.; Srivastava, G. (2005). "Darier's (Darier-White) disease / keratosis follicularis". International Journal of Dermatology 44 (3): 184–192. doi:10.1111/j.1365-4632.2004.02408.x. PMID 15807723. 
  6. ^ Gordon-Smith, K. et al. (2010). "The neuropsychiatric phenotype in Darier disease". British Journal of Dermatology 163 (3): 515–522. doi:10.1111/j.1365-2133.2010.09834.x. PMID 20456342. 
  7. ^ a b Sakuntabhai A, Burge S, Monk S, Hovnanian A (September 1999). "Spectrum of novel ATP2A2 mutations in patients with Darier's disease". Hum. Mol. Genet. 8 (9): 1611–9. doi:10.1093/hmg/8.9.1611. PMID 10441323. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=10441323. 
  8. ^ Andrew's Diseases of the Skin (James, Berger, Elston, 10th ed., Saunders Elsevier, 2006)
  9. ^ Lippincott's Illustrated Reviews: Biochemistry (Champe, Harvey & Ferrier, ISBN 0781722659, 3rd ed., Lippincott Williams & Wilkins 2005)

External links

v · d · eCongenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)
Genodermatosis
Congenital ichthyosis/
erythrokeratodermia
AD
AR
Ungrouped
Ichthyosis bullosa of Siemens · Ichthyosis follicularis · Ichthyosis prematurity syndrome · Ichthyosis–sclerosing cholangitis syndrome · Nonbullous congenital ichthyosiform erythroderma · Ichthyosis linearis circumflexa · Ichthyosis hystrix
EB
and related
EBS (EBS-K, EBS-WC, EBS-DM, EBS-OG, EBS-MD, EBS-MP)
JEB (JEB-H, Mitis, Generalized atrophic, JEB-PA)
DEB (DDEB, RDEB)
related: Costello syndrome · Kindler syndrome · Laryngoonychocutaneous syndrome · Skin fragility syndrome ·
Hyperkeratosis/
keratinopathy
diffuse: Diffuse epidermolytic palmoplantar keratoderma • Diffuse nonepidermolytic palmoplantar keratoderma • Palmoplantar keratoderma of Sybert • Mal de Meleda •
syndromic (connexin (Bart–Pumphrey syndrome • Clouston's hidrotic ectodermal dysplasia • Vohwinkel syndrome) • Corneodermatoosseous syndrome • plakoglobin (Naxos syndrome) • Scleroatrophic syndrome of Huriez • Olmsted syndrome • Cathepsin C (Papillon–Lefèvre syndrome • Haim–Munk syndrome) • Camisa disease
focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis • Focal palmoplantar and gingival keratosis • Howel–Evans syndrome • Pachyonychia congenita (Pachyonychia congenita type I • Pachyonychia congenita type II)  • Striate palmoplantar keratoderma • Tyrosinemia type II)
punctate: Acrokeratoelastoidosis of Costa • Focal acral hyperkeratosis • Keratosis punctata palmaris et plantaris • Keratosis punctata of the palmar creases • Schöpf–Schulz–Passarge syndrome • Porokeratosis plantaris discreta • Spiny keratoderma
Other
Meleda disease · Keratosis pilaris · ATP2A2 (Darier's disease) · Dyskeratosis congenita · Lelis syndrome
Dyskeratosis congenita · Keratolytic winter erythema · Keratosis follicularis spinulosa decalvans · Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome · Keratosis pilaris atrophicans faciei · Keratosis pilaris
Other

cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis/Urticaria pigmentosa) · Hailey–Hailey

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder
Developmental
anomalies
Midline
Dermoid cyst · Encephalocele · Nasal glioma · PHACE association · Sinus pericranii
Other/ungrouped

Aplasia cutis congenita · Amniotic band syndrome · Branchial cyst · Cavernous venous malformation

Accessory nail of the fifth toe · Bronchogenic cyst · Congenital cartilaginous rest of the neck · Congenital hypertrophy of the lateral fold of the hallux · Congenital lip pit · Congenital malformations of the dermatoglyphs · Congenital preauricular fistula · Congenital smooth muscle hamartoma · Cystic lymphatic malformation · Median raphe cyst · Melanotic neuroectodermal tumor of infancy · Mongolian spot · Nasolacrimal duct cyst · Omphalomesenteric duct cyst · Poland anomaly · Rapidly involuting congenital hemangioma · Rosenthal–Kloepfer syndrome · Skin dimple · Superficial lymphatic malformation · Thyroglossal duct cyst · Verrucous vascular malformation · Birthmark

M: INT, SF, LCT

anat/phys/devp

noco(i/b/d/q/u/r/p/m/k/v/f)/cong/tumr(n/e/d), sysi/epon

proc, drug (D2/3/4/5/8/11)
v · d · eGenetic disorder, membrane: ATPase disorders
ATP1
ATP2
ATP2A1 (Brody myopathy) · ATP2A2 (Darier's disease, Acrokeratosis verruciformis) · ATP2C1 (Hailey–Hailey disease)
ATP7
ATP13
ATP13A2 (Kufor-Rakeb syndrome)
Other
see also ATPase
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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Look at other dictionaries:

  • Darier's disease — Da·rier s disease dar yāz , där n a genetically determined skin condition characterized by patches of keratotic papules called also keratosis follicularis Da·rier dȧr yā Jean Ferdinand (1856 1938) French dermatologist. Darier is known for… …   Medical dictionary

  • Darier-White disease — Da·rier White disease (dah re aґ hwītґ) [J.F. Darier; James Clarke White, American dermatologist, 1833–1916] see under disease …   Medical dictionary

  • Darier's disease — noun a rare hereditary condition marked by dark crusted patches (sometimes containing pus) • Syn: ↑keratosis follicularis • Hypernyms: ↑keratosis * * * där¦yāz, dȧ(r) noun Usage: usually capitalized 1st D Etymology: a …   Useful english dictionary

  • Darier disease — Darier White disease a slowly progressive, autosomal dominant disorder of keratinization caused by mutation in the ATP2A2 gene (locus: 12q23 q24.1), which encodes a calcium transporting ATPase of the sarcoplasmic reticulum. It is characterized by …   Medical dictionary

  • Darier disease — Darier disease. См. фолликулярный дискератоз. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Darier disease sign — Da·rier disease, sign (dah re aґ) [Jean Ferdinand Darier, French dermatologist, 1856–1938] see under disease and sign …   Medical dictionary

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • Darier — Jean F., French dermatologist, 1856–1938. See D. disease, D. sign …   Medical dictionary

  • Ferdinand-Jean Darier — Born 26 April 1856(1856 04 26) Budapest, Hungary Died 1938 (aged 81–82) Paris, France[citation needed] …   Wikipedia

  • Wilson's disease — Classification and external resources A Kayser Fleischer ring (the brown ring on the edge of the iris) is common in Wilson s disease, especially when neurological symptoms are present ICD …   Wikipedia

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