About lamellar recessive ichthyosis

What is lamellar recessive ichthyosis?

Lamellar ichthyosis is a rare genetic skin disorder. In lamellar ichthyosis, the skin cells are produced at a normal rate, but they do not separate normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickly as they should be. The result of this retention is the formation of scale.

What are the symptoms for lamellar recessive ichthyosis?

Babies born with LI are sometimes called “collodion babies.” They are covered in a clear membrane (collodion) so it looks like they are covered with plastic wrap. Their skin can look red or dark, tight, and split. These newborns can have skin that is so tight that it forces their lips to turn outward. Also, the skin on their hands may be tight, preventing them from extending their fingers. Newborns can have problems regulating their body temperature and preventing water loss. They may also be more likely to develop skin infections. The collodion membrane is usually shed a few days to a few weeks after birth. Once this happens, the newborn is covered with broad, dark scales. The space in between the scales may be shallow or deep.

Some people with LI cannot close their eyes because the skin is so tight. In some cases, the skin around the eyes pulls so tightly that it causes the eyelids to turn outward. It can lead to irritation of the inner eyelid and drying of the eyeball. Some doctors recommend surgery to prevent damage to the eyeball and vision problems. People with LI may also have thick nails and hair loss due to the thickness of the scales on their scalp. They may also have thick skin on the palms of the hands and soles of the feet.

What are the causes for lamellar recessive ichthyosis?

LI can be caused by harmful changes in several genes. The most common gene related to this condition is TGM1. Other genes include NIPAL4, ALOX12B, and CYP4F22. These genes provide the instructions to make enzymes and proteins. These enzymes and proteins are important for normal development, function, and shedding of skin cells. There is also evidence that more genes are related to LI. The severity of the condition cannot always be determined based on genetic testing results.

The harmful changes that cause LI are recessively inherited. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and therefore have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.

What are the treatments for lamellar recessive ichthyosis?

Treatment LI is usually treated topically. Doctors use creams that help repair the skin barrier. These creams often contain ceramides or cholesterol. Moisturizers with petrolatum or lanolin may also be used. Sometimes, mild keratolytics or topical retinoids are used as treatment options. Doctors may treat severe LI with oral retinoids. Retinoids can be toxic to the body, so they are used with caution.

To diagnose and treat ARCI, including LI, people may need to see the following medical specialists:

  • Clinical geneticist and/or genetic counselor
  • Skin doctor (dermatologist) familiar with congenital ichthyosis
  • Eye doctor (ophthalmologist) familiar with congenital ichthyosis

Tests for temperature regulation problems and water loss as well as tests for infection may be needed.

What are the risk factors for lamellar recessive ichthyosis?

The condition can affect people of all genders, races, and ethnicities.

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