Ichthyosis vulgaris is characterized by the presence of the dry, thick and scaly skin. Also known as the fish scale disease, it is one of the five main types of ichthyosis which is estimated to affect around 1 in every 250 to 300 individuals. The other main types of ichthyosis include lamellar ichthyosis, congenital ichthyosiform erythroderma, X-linked ichthyosis and epidermolytic ichthyosis. This condition can be present at the birth of the infant or can develop during early childhood. Most of the mild cases often go undiagnosed as these individuals exhibit the dry skin and don’t seek treatment.
Causes
This develops from the genetic mutation that is responsible for the encoding of a protein known as the filaggrin which affects its normal production. This protein is important for the binding of keratin fibers in epidermal cells that form the effective skin barrier. This is inherited in an autosomal semi-dominant condition meaning that a single gene of the chromosomal pair causes the mild form of this disorder and the mutation in both the genes causes the severe form. The adults can also rarely develop the acquired ichthyosis vulgaris as the result of certain existing disease or with the use of various medications. Some of the diseases that can trigger this disorder include certain types of cancer and kidney failure.
Symptoms
The symptoms develop as the result of the problem with the outer skin not shedding properly as it should. As the result, the scale build-up which may be evident in the entire body but appears to be severe over the lower legs and less severe over the torso. The face is usually unaffected, although in some of the cases it can be evident in the forehead and the cheeks. In addition, the skin on the palms of the hands and the soles of the feet also appear to be thickened. This condition can improve with age and with certain climates.
Diagnosis
The diagnosis of this disorder is based on the clinical diagnosis and with the examination of the affected skin that exhibits the characteristic abnormality. The filaggrin mutations can be identified from the buccal smear or the saliva sample. The skin biopsy can also evaluate the level of reduced or absent keratohyalin granules. Additional tests may be necessary to rule out other possible causes of dry or scaly skin. The genetic testing can identify the mutation that causes this type of disorder which can assist with the treatment and the management of the symptoms.
Treatment
The treatment is based on the management of the symptoms such as to reduce the skin dryness, scaling and the thickening of the skin. This can be done with the exfoliation and moisturizing the skin on a regular basis. Some of the treatments that help reduce the scale include bathing in salt water, application of glycolic acid or lactic acid and with the use of oral retinoids.
References
http://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/basics/symptoms/con-20024401
http://www.dermnetnz.org/topics/ichthyosis-vulgaris/
http://www.firstskinfoundation.org/types-of-ichthyosis/ichthyosis-vulgaris
