Darier's disease

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Darier's disease
Synonyms	Keratosis follicularis
Pronounce	N/A
Specialty	Dermatology
Symptoms	Warty papules, keratotic plaques, nail abnormalities, itching
Complications	Bacterial infection, herpes simplex virus infection
Onset	Adolescence
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the ATP2A2 gene
Risks	Family history
Diagnosis	Clinical examination, skin biopsy, genetic testing
Differential diagnosis	Seborrheic dermatitis, acanthosis nigricans, Hailey-Hailey disease
Prevention	N/A
Treatment	Topical retinoids, oral retinoids, corticosteroids, antibiotics
Medication	Acitretin, isotretinoin
Prognosis	N/A
Frequency	1 in 30,000 to 100,000
Deaths	Rare

Darier's disease is a rare, genetic skin disorder characterized by small, hard bumps on the skin. The disease is named after the French dermatologist Ferdinand-Jean Darier, who first described the condition in 1889.

Symptoms

The primary symptom of Darier's disease is the presence of small, hard, yellowish bumps that typically appear on the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ears. These bumps may be itchy and have a foul odor. Other symptoms may include nail abnormalities, such as white and red streaks on the nails and a loss of luster, and mucous membrane changes, such as cobblestone-like patches on the mouth and throat.

Causes

Darier's disease is caused by a mutation in the ATP2A2 gene, which provides instructions for producing a protein that regulates calcium levels in cells. This mutation disrupts the normal development of skin cells, leading to the characteristic features of Darier's disease. The disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

The diagnosis of Darier's disease is typically based on the characteristic clinical features. A skin biopsy may be performed to confirm the diagnosis. Genetic testing may also be used to identify the ATP2A2 gene mutation.

Treatment

There is currently no cure for Darier's disease, and treatment is aimed at managing the symptoms. This may include the use of topical creams and ointments to soften the skin and reduce itching, oral medications to reduce the production of skin cells, and laser therapy or dermabrasion to improve the appearance of the skin.

Prognosis

The prognosis for individuals with Darier's disease varies. Some individuals may have mild symptoms and require little to no treatment, while others may have severe symptoms that significantly impact their quality of life. The disease tends to worsen with heat, humidity, and exposure to sunlight.

Gallery

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  Nail changes in Darier's disease

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  Autosomal dominant inheritance pattern

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  Darier's disease

See also

• List of skin conditions
• Genetic disorder
• Dermatology

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