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.

Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems.

Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner.

Treatment is based on the signs and symptoms present in each person.

Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane.

Risk factors-

• Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems.
• Mutations in the TGM1 gene are responsible for approximately 90 percent of cases of lamellar ichthyosis. The TGM1 gene provides instructions for making an enzyme called transglutaminase 1
   
• Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 91,000 individuals are affected.
   
• This condition is inherited in an autosomal recessive factor, which means both copies of the gene in each cell have mutations.
   
• Since it is an autosomal recessive disorder, it can affect men and women equally.
• This condition presents itself as multiple symptoms and issues in the patients. So, people with metabolic disorders and systemic conditions have high risk for this disease.
• The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Symptoms
Thick skin,Tightening of skin in infants
Conditions
Collodion memberane on the surface of the skin, also associated with erythema, alopecia
Drugs
Moisturising the zone,Sympromatic treatment

Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane.
This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward.
People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their bodies.

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
• A skin doctor (dermatologist) familiar with congenital ichthyosis
• An eye doctor (ophthalmologist) familiar with congenital ichthyosis
• Tests for temperature regulation problems and water loss as well as tests for infection, may be needed.

Symptoms
Thick skin,Tightening of skin in infants
Conditions
Collodion memberane on the surface of the skin, also associated with erythema, alopecia
Drugs
Moisturising the zone,Sympromatic treatment