Harlequin And Ichthyosis Similarities
Comparison of Harlequin and Lamellar Ichthyosis
In the world of genetics, genes are what drive the pathways to how the body processes, when there is a mistake in the gene the bodies mechanic do not function the way it should. In many cases, a result would be a deformity and/or a disease. In humans there are 46 chromosomes and on each of these chromosomes are thousands and thousands of genes which all correlate to the function of the body. When mutations occur this can lead to problems, with Harlequin Ichthyosis and Lamellar Ichthyosis can see the effect of the mutations. Both of these diseases are found on different chromosomes, but they seem to have similar symptoms. How different are these chromosomes in the way they function? In many ways …show more content…
Harlequin Ichthyosis symptoms are a thick layers of skin that becomes dehydrated to form “hard diamond shaped plaques” (Gene responsible for severe congenital skin disease identified). Since their skin becomes so hard it limits their movements as well as breathing/eating problems and also are more susceptible to infections. Lamellar Ichthyosis has symptoms pertaining to “Neonates are often born encased in a tough and inelastic film-like membrane that fissures easily, resulting in a high risk of sepsis and dehydration. Within 2 weeks the membrane sheds, revealing a lifelong disfiguring disease characterized by generalized large scales and variable redness of the skin “ (Mutations of keratinocyte transglutaminase in Lamellar Ichthyosis). The symptoms seem to correlate even visually. The picture of the left is Harlequin Ichthyosis, as seen it is more devastating than Lamellar skin (on the right). Also take into consideration that the left is a new born while the right is two months old, but if you look closely it is possible to see the dry skin where the ridges look similar. Also take into consideration that having one same condition can lead to other symptoms; With the thick, hard skin it is possible to see how hard it would be to move, breath, and eat when your skin can not move with the …show more content…
The idea is TGM1 and ABCA12 make the same altered protein that TCF3 does.
Both of these diseases are very severe to the babies, but as medicine has improved their lifespans have increased along with comfortability. With treatment both of these genetic diseases are manageable. In recent research they have found genetic therapy has helped, but the therapy has not yet stuck. It only lasts a few weeks, but it helps symptoms. Scientists are still looking for better treatments. A study conducted by Barrier Therapeutics Inc. of liarozole in Lamellar patients to see the effects, “The drug was well-tolerated across both active treatment arms, and there were no reports of drug-related serious adverse events” (Science Letter, 2007). In some cases of Lamellar Ichthyosis can lead to rickets due to a low vitamin D. Three patients were treated differently to help their symptoms. They were all treated with vitamin D which helped with the rickets, but their skin did not improve without the help of calcipotriene. Calcipotriene is a topical treatment (Pediatrics, 2004). In both diseases, treatments of topical treatments of heavy duty lotion, along with retinoids taken orally, Emollients, Locobase fatty cream, and Oral
In the world of genetics, genes are what drive the pathways to how the body processes, when there is a mistake in the gene the bodies mechanic do not function the way it should. In many cases, a result would be a deformity and/or a disease. In humans there are 46 chromosomes and on each of these chromosomes are thousands and thousands of genes which all correlate to the function of the body. When mutations occur this can lead to problems, with Harlequin Ichthyosis and Lamellar Ichthyosis can see the effect of the mutations. Both of these diseases are found on different chromosomes, but they seem to have similar symptoms. How different are these chromosomes in the way they function? In many ways …show more content…
Harlequin Ichthyosis symptoms are a thick layers of skin that becomes dehydrated to form “hard diamond shaped plaques” (Gene responsible for severe congenital skin disease identified). Since their skin becomes so hard it limits their movements as well as breathing/eating problems and also are more susceptible to infections. Lamellar Ichthyosis has symptoms pertaining to “Neonates are often born encased in a tough and inelastic film-like membrane that fissures easily, resulting in a high risk of sepsis and dehydration. Within 2 weeks the membrane sheds, revealing a lifelong disfiguring disease characterized by generalized large scales and variable redness of the skin “ (Mutations of keratinocyte transglutaminase in Lamellar Ichthyosis). The symptoms seem to correlate even visually. The picture of the left is Harlequin Ichthyosis, as seen it is more devastating than Lamellar skin (on the right). Also take into consideration that the left is a new born while the right is two months old, but if you look closely it is possible to see the dry skin where the ridges look similar. Also take into consideration that having one same condition can lead to other symptoms; With the thick, hard skin it is possible to see how hard it would be to move, breath, and eat when your skin can not move with the …show more content…
The idea is TGM1 and ABCA12 make the same altered protein that TCF3 does.
Both of these diseases are very severe to the babies, but as medicine has improved their lifespans have increased along with comfortability. With treatment both of these genetic diseases are manageable. In recent research they have found genetic therapy has helped, but the therapy has not yet stuck. It only lasts a few weeks, but it helps symptoms. Scientists are still looking for better treatments. A study conducted by Barrier Therapeutics Inc. of liarozole in Lamellar patients to see the effects, “The drug was well-tolerated across both active treatment arms, and there were no reports of drug-related serious adverse events” (Science Letter, 2007). In some cases of Lamellar Ichthyosis can lead to rickets due to a low vitamin D. Three patients were treated differently to help their symptoms. They were all treated with vitamin D which helped with the rickets, but their skin did not improve without the help of calcipotriene. Calcipotriene is a topical treatment (Pediatrics, 2004). In both diseases, treatments of topical treatments of heavy duty lotion, along with retinoids taken orally, Emollients, Locobase fatty cream, and Oral