About lamellar ichthyosis type 1 and type 2

What is lamellar ichthyosis type 1 and type 2?

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 ichthyosis type 1 and type 2?

T symptom was found in the lamellar ichthyosis type 1 and type 2 condition

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.

What are the causes for lamellar ichthyosis type 1 and type 2?

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.

What are the treatments for lamellar ichthyosis type 1 and type 2?

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

What are the risk factors for lamellar ichthyosis type 1 and type 2?

The condition lamellar ichthyosis type 1 and type 2 mostly affects the skin. A collodion membrane, which is a tight, transparent sheath covering the skin, is frequently seen on newborns with this disorder.

  • During the first few weeks of life, this membrane typically dries and peels off, making the affected babies' scaly skin, outward-curling eyes, and lips evident.
  • The majority of the body is often covered with thick, , plate-like scales on those with lamellar ichthyosis. There are two types in the disease based on the gene which is mutated.
  • In the United States, lamellar ichthyosis is thought to affect 1 in 100,000 people. In Norway, where it affects an estimated 1 in 91,000 people, the illness is more prevalent.
  • There is a mild variation in two types of this disease. However the risk factors for both types remain the same.
  • Due to the autosomal recessive nature of this condition's inheritance, both copies of the mutated gene exist in every cell.
  • Because it is an autosomal recessive illness, both men and women may be affected.
  • Patients with this illness experience a variety of symptoms and problems. Therefore, those with metabolic and systemic diseases are at a higher risk of contracting this illness.
  • One copy of the defective gene is carried by each parent of a person with an autosomal recessive disorder, although usually neither parent exhibits the disease's signs and symptoms.


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

Is there a cure/medications for lamellar ichthyosis type 1 and type 2?

Lamellar ichthyosis type 1 and type 2 is a rare genetic condition that affects the skin. Infants affected by Lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodion membrane) that is typically shed within the first two weeks of life.

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.


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

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