Thursday, June 28, 2012

SCARY MEDICAL CONDITION: HARLEQUIN ICHTHYOSIS



HARLEQUIN ICHTHYOSIS





Harlequin ichthyosis is a form of congenital ichthyosis, a condition existing at birth and often before birth.This condition is genetical in predisposition and it is very rare its exact incidence is unknown.

Neonates with this condition have coarse, hard thick skin covering most of the newborn's body. The skin have a deep cracks, thickening of the keratin layer, and forms like a diamond-shaped or fish-like scales separated with redish deep cracks (fissures). The eyes, ears, penis and lips may be abnormally contracted thus limiting its movement.

It greatly limits the infants movement. Because of the cracked keratin covering in the infants body the skin is stiff and not flexible enough to prohibit normal folding in areas in the extremities, limiting its movement. It also inhibit the chest to expand that can lead to breathing difficulties. The normal skin of an infant serves as a barier on the outside environment, a thermal regulator, it keeps body fluids inside the body. But in infants with this condition the skin is susceptible in infection resulting in life-threatening sepsis. It is difficult for them  to control water loss causing dehydration, and unable to regulate normal body temperature.



Diagnosis of this kind of condition relies on physical examination and laboratory examination. Physical assessment of the patient at birth reveals the characteristic symptoms of the skin surface of the newborn. The most specific to diagnose this condition is by Genetic Testing for Harlequin Ichthyosis. It involves by taking a sample of the newborn's DNA. Biopsy of the skin is also done to reveal histologic characteristics of the cells. Findings reveal a hyperkeratotic skin cells, which cause to thick and hard skin layer. Genetic Testing also reveals a mutation on the ABCA12 gene. This gene is responsible for the development of the skin layer. A mutation in the gene impair the transport of the lipids in the skin.

This condition is highly genetical meaning it can be inherited. In autosomal recessive pattern both copies of the gene in each cell have mutations. The parents of the child suffering from this condition, each carry one copy of the mutated gene, but both may do not show signs and symptoms of the condition. So the chances is very rare. However the chances of these parents that have each mutated gene produce Harlequin child is in a ratio of 1 in 4.

The treatment of the condition varies in the past. As this condition is always fatal, whether due to dehydration, infection, restricted breathing, poor feeding or other related cause. There are improvement in care, one of the notable drug is the Isotretinoin, this drug is retinoid a resemblance to retinoic acid, a natural vitamin A, found in small quantities naturally in the body. It i responsible for normal embryonic development.



Nusrit "Nelly" Shaheen, is the oldest known survivor suffering with the condition. One of nine children, four of whom suffered from the condition and died as young children. Born 1984 and studying sports coaching and leadership at Hereward College.

4 comments:

  1. Yes ...it is rare and genetic and now modern medicine do have much control over this disease. Dr. Shefali Rajpopat recently done a study of 45 harlequin babies and found that 'RETENOID' can help in such condition and mortality rate can be reduced.

    http://www.harlequinichthyosis.org

    ReplyDelete
  2. As of now, there is no known cure for this condition. Herbal Treatment for Ichthyosis with coconut oil is done to manage and control the symptoms.

    ReplyDelete
  3. This is such a great resource that you are providing and you give it away for free. I love seeing blog that understand the value. Im glad to have found this post as its such an interesting one! I am always on the lookout for quality posts and articles so i suppose im lucky to have found this! I hope you will be adding more in the future... health

    ReplyDelete
  4. If you are on a picnic, watching movies, or looking for a delicious desert, then you can try the Gummi Candy CBD for sleep

    ReplyDelete