Ichthyosis, Congenital, Autosomal Recessive

What is Ichthyosis, Congenital, Autosomal Recessive?

This rare disease is a form of a scaling disorder which can include psoriasis, contact dermatitis, eczema, and fungal skin infections as symptoms.

Babies born with the syndrome are usually born in what is called a collodion membrane, a translucent covering, earning them the name collodion babies

What gene changes cause Ichthyosis, Congenital, Autosomal Recessive?

So far there are 14 genes that have been identified as causing the syndrome. In the US the gene most frequently responsible for causing the syndrome is the TGM1 gene.

This mutation prevents the transglutaminase-1 enzyme from working properly. This prevents the body from developing what is known as the cornified envelope, which protects the skin from heat loss, water loss and infections.

Other genes associated with the syndrome include the ABCA12, ALOX12B, ALOXE3, ARC17, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, ST14, SULT2B1 genes.

It is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Ichthyosis, Congenital, Autosomal Recessive?

The symptoms of the syndrome are all related to the skin. In most cases these symptoms are considered to be severe.

Scaly skin, or skin with a scale like presentation, is the most common symptom of the syndrome. This in turn may trigger secondary complications including skin infections.

How does someone get tested for Ichthyosis, Congenital, Autosomal Recessive?

The initial testing for Ichthyosis, Congenital, Autosomal Recessive syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing

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