Ichthyosis is characterized by the presence of the dry, thickened skin. The name Ichthyosis is derived from the Greeks which is known as fish because of the appearance of the fish scales from the thickened skin. The inherited form of this disorder is usually evident at the birth of the infant and continues throughout their life. The acquired form can develop as the result of problems with the hormone or other malignant disorders. The various types of Ichthyosis include localized Ichthyosis, lamellar Ichthyosis, Ichthyosis vulgaris and congenital ichthyosiform erythroderma.
Lamellar Ichthyosis
The infants born with this type of skin condition typically have large plate-like scales that cover most of the body. They can also develop infections as the result of dehydration and respiratory problems. In addition, they have hair loss, abnormality of the fingernails, a problem with sweating and sensitivity to heat. This type of skin disorder is estimated to affect around 1 in 100,000 infants in the United States. The mutation in the gene TGM1 causes 90% of the cases which is important for the production of an enzyme known as transglutaminase 1. When the genetic mutation affects the production of the enzyme, it results in the problem of the structure that envelops the skin cells. The inheritance pattern is identified as autosomal recessive where both the copies of the gene in each cell from the parents are defective. The parents of these individuals may not necessarily show the symptoms associated with this condition.
Ichthyosis vulgaris
Most of these cases are mild although some can be severe. This type of disorder affects the normal shedding process of the skin and as the result, the excessive build-up of the protein keratin occurs. The children with this inherited condition usually have normal skin and develop the problems of the skin during their first year of life. The signs include the dry scaly skin, flaky scalp, painful cracks of the skin and the presence of small scales. It is also associated with other skin diseases such as eczema. Although there is no cure for this condition, the treatment is usually focused on the management of the symptoms.
Congenital Ichthyosiform erythroderma
This is an extremely rare form of the disorder that is estimated to affect 1 in 300,000 births. The signs include the appearance of bright red skin that is accompanied with the flesh colored scales which usually affects all of the skin, although the face may have milder changes. This can appear within the first few days of the infant’s life and is a lifelong condition. It is inherited in an autosomal recessive pattern meaning that the parent is a carrier of a single abnormal gene. Some of the additional complications of this type include eye problems such as ectropion, hair loss and the overheating of the body.
References
https://ghr.nlm.nih.gov/condition/lamellar-ichthyosis#genes
https://www.niams.nih.gov/health_info/Ichthyosis/
