Darier disease

Other Names: Darier disease, Darier–White disease, Dyskeratosis follicularis[1], and Keratosis follicularis

Description:
It is a rare inherited skin condition, in which the skin in certain areas develops large numbers of small brownish warty bumps.

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It 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.

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Mild forms of the disease are the most common, consisting solely of skin rashes that flare up under certain conditions such as high humidity, high stress, or tight-fitting clothes. Short stature, when combined with poorly-formed fingernails that contain vertical striations, is diagnostic even for mild forms of DAR.

Darier’s disease 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 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.

Worldwide prevalence is estimated as between 1: 30,000 and 1: 100,000. Case studies have shown estimated prevalence by country to be 3.8: 100,000 in Slovenia, 1: 36,000 in north-east England, 1: 30,000 in Scotland, and 1: 100,000 in Denmark.

Darier’s disease most commonly affects the chest, neck, back, ears, forehead, and groin, but may involve other body areas. The rash associated with DAR often has a distinct odor. Palms & soles may become thickened, and sufferers may present intraoral papules. Fingernails become fragile, which 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.

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 but unconfirmed link to learning disorders.

Symptoms:
Itching is very common. The affected skin may smell unpleasant, particularly in moist areas. This is probably caused by increased numbers of ordinary skin bacteria growing in the affected skin. The appearance of the rash, and its smell, can be embarrassing.

A quarter of patients notice that the condition improves as they get older. Some people find that the sun causes their Darier’s disease to flare up. Some women notice that it worsens around the time of their periods.

Causes:
In the outer layer (epidermis) of normal skin, the skin cells are held together like bricks cemented in a wall. In Darier’s disease the sticky junctions that hold the skin cells together are not made properly, and the skin may become scaly or lumpy or even form blisters. It is not due to an allergy and it is not contagious (catching).

Diagnosis:
The diagnosis can often be made on the appearance of the rash and the fact that it runs in families. To confirm it, a small sample of skin (a biopsy) can be removed under a local anaesthetic and examined under the microscope in the laboratory.

Darier’s disease is sometimes mistaken for other skin conditions and is usually diagnosed by the appearance of the skin and the family history.

Patients present with the following signs:

1. Hyperkeratotic papules present over the seborrheic area of the body.

2. V-shaped nicking present at the tip of the nails.

3. Red and white longitudinal nail lines.

Treatment:
There is no cure of this disease, but there are many ways of helping it.

Treatment of choice for severe cases is oral retinoids. During flares, topical or oral antibiotics may be administered. Ciclosporin and prescription-only topical corticosteroids, e.g., betamethasone, have been used during acute flares. Some patients are able to prevent flares with use of topical sunscreens and oral vitamin C.[13]

For minor forms, no specific treatment is required, but avoidance of excessive heat, humidity, stress, and tight-fitting clothes is advised, as well as maintaining good hygiene. Topical creams (as above) are occasionally required to deal with flare-ups:

1.Benzoyl peroxide

2.Isotretinoin

3.Topical diclofenac sodium

Prognosis:
A 1992 study of 163 affected persons found that most patients had no other medical problems, and most manage to lead a relatively normal life.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
https://en.wikipedia.org/wiki/Darier%27s_disease
http://www.britishskinfoundation.org.uk/SkinInformation/AtoZofSkindisease/DariersDisease.aspx

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