Lamellar Ichthyosis

Scientific disease name: Lamellar Ichthyosis

Common disease name: LI, & collodion baby

Keila Neri

Science- hr.3

Language Arts-hr.2

Lamellar Ichthyosis Description

Collodion baby with translucent membrane of the bo

Lamellar Ichthyosis is an autosomal recessive disorder that is apparent at birth. Infants that have LI are born in a collodion membrane that sheds within 10-14 days. After the baby sheds it instantly reveals scaling and redness. The clear cover is so tight that infants are more likely to become victims of extroverted eyes & lips. Doctors try to keep the baby in a humidified incubator to prevent such problems.

History of LI 

Lamellar Ichthyosis diagnosis date back to circa 200 B.C in India & China. There is no specific person who traces back to its original discovery or diagnosis.

Cause of LI

lamellar-ichthyosis15 7

Mutations in one of many genes can cause lamellar ichthyosis. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The genes being mutated disrupt the normal formation of the epidermis, which cause impaired regulation of body temperature, water retention, and resistance to infections. Mutations in the TGM1 gene are responsible for approximately 90 percent of cases of LI. Lamellar Ichthyosis is an autosomal recessive disorder, this means that each parent may have normal skin but is a carrier for one single abnormal gene.

Transmission

You can not get Lamellar Ichthyosis from somebody else who has it. The only way you can attain LI is if one or your both of your grandparents or parents have TGM1.

Symptoms

Usually someone with LI can develop respiratory problems and easily get dehydrated. Since most people with LI have their eyelids turned outwards their eyes are usually very dry. Also their skin is very dry because of the scales.

Treatment

There is no current cure for Lamellar Ichthyosis but there are treatments:

  • Moisturizers-also called emollients & bath oils are very important to make the dry skin feel better, loos less dry & flaky, and also prevent cracking
  • Prevent overheating especially for children, they should not be in the heat to prevent overheating
  • Eye treatment-using moisturizing eye drops (artificial tears) can help someone with LI to prevent them to get too dry
  • Drugs by mouth-Synthetic vitamin A drugs (called retinoid, acitretin or isotretinoin) can be very helpful because it decreases the level of scaling but doesn’t help redness

Prevention

Lamellar Ichthyosis is confined to the skin so it cannot be prevented. LI simply has to do with your genes.

Effects

People with LI can not exercise or be in hot weather for long because they can easily overheat by the scales preventing them to sweat properly. In cold weather they can easily get hypothermia because of heat loss.  Severe scaling of the skin on the scalp can lead to patchy loss of hair

References

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