About Keratosis Follicularis (Darier Disease)

What is Keratosis Follicularis (Darier Disease)?

Keratosis Follicularis (Darier Disease) is a rare, inherited skin disorder that is characterized by scaly, reddish-brown bumps on the skin. These bumps are caused by the abnormal growth of cells in the outer layer of the skin. Symptoms of the disorder can include thickening of the skin, white patches, and wart-like growths. The condition is caused by a mutation in the ATP2A2 gene, which is responsible for the production of an enzyme that helps regulate the movement of calcium in cells. Treatment for the disorder typically involves topical medications, laser therapy, and in some cases, surgery.

What are the symptoms of Keratosis Follicularis (Darier Disease)?

The main symptoms of Keratosis Follicularis (Darier Disease) are:

-Raised, scaly, and crusty patches of skin, usually on the chest, back, neck, and face

-White or yellowish bumps on the skin

-Discolored patches of skin

-Itchy skin

-Rough, thickened skin

-Nail changes, such as ridges, pits, and discoloration

-Warts on the face, neck, and scalp

-Hair loss

-Foul-smelling discharge from the affected areas

-Eye Irritation and vision problems

What are the causes of Keratosis Follicularis (Darier Disease)?

Keratosis Follicularis (Darier Disease) is caused by a mutation in the ATP2A2 gene, which is responsible for producing a protein called SERCA2a. This protein is involved in the regulation of calcium levels in cells. The mutation causes the SERCA2a protein to be defective, leading to an accumulation of calcium in the cells of the skin, resulting in the characteristic symptoms of the disease.

What are the treatments for Keratosis Follicularis (Darier Disease)?

1. Topical medications: Topical retinoids, such as tretinoin, can be used to reduce the appearance of lesions.

2. Oral medications: Oral retinoids, such as isotretinoin, can be used to reduce the severity of the condition.

3. Photodynamic therapy: This involves using a laser to destroy the abnormal cells.

4. Cryotherapy: This involves freezing the affected areas with liquid nitrogen.

5. Surgery: In severe cases, surgery may be necessary to remove the lesions.

6. Antibiotics: Antibiotics may be prescribed to treat any secondary infections.

What are the risk factors for Keratosis Follicularis (Darier Disease)?

1. Genetic predisposition: Keratosis Follicularis (Darier Disease) is an autosomal dominant disorder, meaning that it is inherited from one parent.

2. Age: The condition is most commonly seen in adults between the ages of 20 and 40.

3. Gender: The condition is more common in males than females.

4. Sun exposure: Prolonged exposure to the sun can worsen the condition.

5. Stress: Stress can trigger or worsen the condition.

6. Certain medications: Certain medications, such as lithium, can trigger or worsen the condition.

Is there a cure/medications for Keratosis Follicularis (Darier Disease)?

Yes, there are treatments available for Keratosis Follicularis (Darier Disease). These include topical retinoids, topical calcineurin inhibitors, topical corticosteroids, oral retinoids, and oral antibiotics. In some cases, laser therapy may also be used.