Ichthyosis, Congenital, Autosomal Recessive

Ichthyosis, Congenital, Autosomal Recessive
* This composite image of Ichthyosis, Congenital, Autosomal Recessive was created to help geneticists get a better analysis

What is Ichthyosis, Congenital, Autosomal Recessive?

Ichthyosis is a rare scaling disorder that may present with symptoms such as psoriasis, contact dermatitis, eczema, and fungal skin infections.

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

This syndrome is also known as:
Collodion Baby, Self-healing, SHCB; Collodion Fetus; Collodion phenotype; Desquamation of Newborn; Ichthyosis-congenital Ichthyosis-exfoliative Ichthyosis-lamellar Ichthyosis Congenita; Ichthyosis Congenita II; ICR2 Ichthyosis Congenital, Autosomal Recessive 1, with Bathing Suit Distribution; Ichthyosis, Lamellar, 1, Formerly; LI1, Formerly Lamellar Exfoliation Of Newborn LI1 LI2 Nonbullous congenital ichthyosiform erythroderma

What gene change causes 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 and autosomal Recessive?

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

Possible clinical traits/features:
Autosomal recessive inheritance, Nail dysplasia, Alopecia, Hypotrichosis, Congenital ichthyosiform erythroderma, Flexion contracture, Nail dystrophy, Desquamation of skin soon after birth, Everted lower lip vermilion, Erythroderma, Ectropion, 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 is it diagnosed?

To find out if someone has a diagnosis of Ichthyosis, Congenital or autosomal Recessive, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Share this syndrome

Ichthyosis, Congenital, Autosomal Recessive
* This composite image of Ichthyosis, Congenital, Autosomal Recessive was created to help geneticists get a better analysis

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more