TGM1-related autosomal recessive congenital ichthyosis

What is TGM1-related Autosomal Recessive Congenital Ichthyosis?

TGM1-related autosomal recessive congenital ichthyosis (ARCI) is a genetic skin condition caused by a disruption in the proper formation of proteins that are found in the outer layer of the skin (epidermis). TGM1 accounts for 38%-55% of ARCI.

Infants with this disorder typically are born with a tight, clear covering over their skin called a collodion membrane. This membrane usually dries up and peels off in the first few weeks of life, leaving scaly skin. The eyelids and lips are turned outward (ectropion). Some newborns will have contractures of their fingers. Generally, individuals with TGM1-related ARCI have large, dark scales that cover most of their skin. Infants will commonly develop infections, and are at risk for dehydration and respiratory problems. Affected individuals may also have hair loss (alopecia), a decreased ability to sweat (hypohidrosis), increased sensitivity to heat and thick skin on their hands and feet.

How common is TGM1-related Autosomal Recessive Congenital Ichthyosis?

TGM1-related ARCI is thought to occur in less than 1 in 200,000 people worldwide. Although the data is somewhat limited, increased incidence of TGM1-related ARCI has been reported in Norway (1 in 91,000 individuals), Spain, and Southern India.

How is TGM1-related Autosomal Recessive Congenital Ichthyosis treated?

Treatment for newborns with TGM1-related ARCI generally requires a moist environment and minimizing the risk for infections and immediate treatment of infections. Topical petrolatum-based creams and ointments are used to keep the skin soft and hydrated. As affected individuals grow, daily use of petroleum or lanolin based creams, long baths to help with lubrication, and alpha-hydroxy acid treatments are required. For those with a severe form of the disease, oral retinoids may be indicated. Additionally, all affected individuals require continued surveillance for respiratory infection and dehydration.

What is the prognosis for a person with TGM1-related Autosomal Recessive Congenital Ichthyosis?

Individuals affected with TGM1-related ARCI generally have a good prognosis with early treatment. The disease will usually remain stable over the lifetime of the affected individual. In the newborn period, the risk for infection (sepsis) is great, therefore it is important that appropriate therapies be initiated immediately following delivery.