TGM1-related autosomal recessive congenital ichthyosis (ARCI) is a skin condition caused by a problem in how proteins in the outer layer of the skin are formed. TGM1 is responsible for 38%-55% of ARCI.
Babies with this condition are usually born with a tight, clear covering on their skin called a collodion membrane. This covering dries up and comes off in the first few weeks of life, revealing scaly skin. The eyelids and lips may turn outward (ectropion), and some newborns may have tightness in their fingers. People with TGM1-related ARCI often have large, dark scales covering most of their skin. Infants are prone to infections, dehydration, and respiratory issues. Hair loss (alopecia), reduced ability to sweat (hypohidrosis), heightened sensitivity to heat, and thick skin on the hands and feet are also common. Treatment for newborns involves creating a moist environment, reducing infection risks, and promptly treating infections. Petrolatum-based creams and ointments are used to keep the skin soft and hydrated. As individuals grow, they need to use creams, take long baths for lubrication, and undergo alpha-hydroxy acid treatments regularly. In severe cases, oral retinoids may be recommended. Ongoing monitoring for respiratory infections and dehydration is necessary for all affected individuals.
As noted above, this form of ARCI is caused by pathogenic (disease-causing) variants in the TGM1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Other names for this condition are collodion baby syndrome and lamellar ichthyosis.