Over Netherton, Ichthyosis en de stichting

Netherton rug

Darrier’s disease

Other than most Ichthyosis types, Darrier’s disease symptoms develop around puberty. It is a rare inherited disease. Small red and brown scales develop on the chest, back (particularly the shoulder blades), skin creases like the groin or under the breasts. In some cases the scalp is affected as well. In some cases symptoms appear over the whole body. Severity of the symptoms varies from case to case. Darrier’s disease is autosomal dominant inherited. When one parent is affected the child has 50% chance to be affected as well. The faulty gene that causes Darrier’s disease is ATP2A2.

Darrier’s disease is also known as Dyskeratosis follicularis or Keratosis follicularis. Dyskeratosis means a disruption in the epidermisation process. Keratosis means thickening of the epidermis. The cells in the upper layer of the skin do not grow fully and scaling occurs. When the upper layer of the skin is thickened, scabs appear. Because the skin is leaking it is vulnerable for infection. The symptoms get more severe in hot climates and wearing tight clothes.

Characteristic for Darrier’s disease is abnormality in nails: red or white lines in the length of the nail. The end of the nail can become loose.

There is no cure for Darrier’s disease. But symptoms can be treated:

  • Bacterial infections can be treated with creams like bactroban or betadine scrub. Sometimes antibiotics are needed.
  • Thickening of the epidermis can be treated with urea cream. This acid will break down the epidermis.
  • Avoid direct sunlight or heat. Use a sunscreen with high protection factor.
  • Creams with vitamin A have positive effects on the epidermisation of the skin. These products are also known as retinoids and can be given in tablet form. Neotigason is a medicine with vitamin A and can be prescribed in severe cases. Both medicines can have negative side effects.
  • Infections and ‘wet’ spots can smell. Anti-septic soap can be used.

Darrier’s Disease is diagnosed through skin biopsy and genetic research.