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About ichthyosis lamellar

What is ichthyosis lamellar?

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 ichthyosis lamellar?

Body temperature is not stable symptom was found in the ichthyosis lamellar 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 ichthyosis lamellar?

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 ichthyosis lamellar?

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

What are the risk factors for ichthyosis lamellar?

A rare inherited skin condition known as ichthyosis lamellar manifests at the birth of a child.

  • Ichthyosis lamellar is one of the three autosomal recessive congenital ichthyoses, which are inherited skin conditions (ARCI). The other two are referred to as congenital ichthyosiform erythroderma and harlequin ichthyosis.
  • The clinical spectrum is the term used to describe all ARCI conditions. The symptoms of several ARCI diseases overlap.
  • The body produces skin cells normally in ichthyosis lamellar. But they don't separate from one another at the skin's surface as they ought to.
  • Brown scales also develop because the body does not shed the skin at a fast enough rate.
  • The damaging alterations that lead to ichthyosis lamellar are inherited in a recessive manner.
  • When a person inherits a dysfunctional gene from each parent, they develop recessive genetic diseases.
  • An individual will be a carrier of the disease if they have one working gene and one non-working gene for it, but they often won't exhibit any symptoms.
  • Ichthyosis is a sign of different medical diseases. However, a lot of these illnesses are syndromic and have other symptoms unrelated to skin problems.
  • Cognitive impairments, neurological system issues, and arm/leg shortening are a few of these symptoms.

Loss of fluid (dehydration),Body temperature is not stable,Skin or body-wide infections
Difficulty in feeding,Breathing problems,Electrolyte imbalance
Alpha-hydroxy acids,Topical retinoids,Systemic retinoids

Is there a cure/medications for ichthyosis lamellar?

There is no known cure for ichthyosis lamellar condition.

  • Treatment focuses on reducing symptoms. One of the conditions that gene therapy research is focusing on, along with the other congenital ichthyoses, is this one.
  • The major therapies for ichthyosis lamellar are moisturizers for the skin. In addition to acting as a barrier, moisturizers aid in scaling eradication.
  • The scales can also be removed with urea and microfiber washcloths. Electrolytes should be carefully watched in neonates.
  • The hyperkeratosis may impair the ability of the sweat glands to regulate body temperature. Severe heat intolerance may be present in some people.
  • Oral retinoids are used to accelerate epidermal turnover and can help treat or prevent some of the disease's side effects.
  • Improved heat tolerance may result from increased perspiration brought on by oral retinoids.
  • Additionally, oral retinoids may lessen the tendency to develop ectropion and the thick periocular scale.
  • Patients with ectropion can benefit from artificial tears and eye lubricants, while surgery is recommended for individuals with severe conditions.
  • Collodion babies usually need to stay in the neonatal intensive care unit (NICU) and will need extra feedings. Moisturizers need to be applied to the skin. After the collodion membrane is shed, babies can usually go home.

Loss of fluid (dehydration),Body temperature is not stable,Skin or body-wide infections
Difficulty in feeding,Breathing problems,Electrolyte imbalance
Alpha-hydroxy acids,Topical retinoids,Systemic retinoids

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