鱼鳞癣患者іхтіозسماك

ichtyóza קשקשת

ictiosisихтиоз

イクスィオウスィス ichtyose iktiyozis

Ichthyosisis a common skin disorder passed down through families that leads to dry,

scaly skin. It is one of the most common of the inherited skin disorders and may begin in early childhood, before age 4.

Inheritance

• The condition is inherited in an autosomal dominant pattern.– That means you only need to get the abnormal gene from one

parent in order for you to inherit the disease.

• The disorder is believed to be caused by mutations to the gene encoding profilaggrin(a protein which is converted to filaggrin which plays a vital role in the structure of the skin).

• profilaggrin gene (FLG)

Symptoms and Statistics

• Dry skin, severe, scaly skin ( scales),possible skin thickening, mild itching of the skin

• Affects around 1 in 250 people• Overall not extremely common and occurrence depends on

its severity• Not seen in particular races or sexes , can affect everyone• The protein filaggrin is important in maintaining effective skin

barrier function. Loss-of-function mutations in the profilaggrin gene (FLG) are evident in up to 10% of the population, causing ichthyosis

Life Span and Treatments

• In most cases people infected with ichthyosis live to be of average age and live productive lives.

• In more severe cases a child will often die within several day, weeks, and very few months after birth

• There is no cure, only treatments» Topical retinoids are helpful for some patients.» Alpha-hydroxy acids (eg, lactic, glycolic, or pyruvic acids) are effective for hydrating the skin» Removal of scales can be aided by keratolytics (eg, salicylic acid)» Over-the-counter products often contain urea or propylene glycol.

Family Matters

• Parents to children born with devistating Harlequin Ichlyosis often lose their child shortly after they are born

• People with family members with mild ichlyosis have to regualry monitor and provide proper treatments for member (mainly for younger people)

Living with Ichthyosis“The daily and weekly routine to maintainmy skin is labor intensive and involved, aconstant trade-off between looking andfeeling ‘‘good’’ yet not consuming so muchof my life that my world becomes unhealthilydominated by it”.

- Laura Phillips

“The cold days were extremely hard for my condition. At that time, blisters would erupt. I had the most painful blisters and would be house bound. The hot seasons were also unbearable and would make me very itchy. I would itch until my skin would peel off. I just needed someone or something to help me to stop the itch until my teenage years”. -Esther K

“An Ichthyosis sufferers skin sheds rapidly. Overnight we can shed the equivalent of what a person with ‘ordinary’ skin sheds in two weeks. So vacuuming the house is virtually constant. With Bullous Ichthyosis there are blisters too, which are very painful and very unpredictable as to where and when they will flare up and as to how bad they will be. The blisters make getting around very difficult, and antibiotics and dressings are frequently needed when this occurs.

... هم يفكر واسمحوا

What have I learned personally?

1. To be thankful that I have relatively decent health and do not suffer from any debilitating diseases

“With gratitude the universe is eternally abundant”

Con’t2. Skin defines Nothing3. I hate doing research

Works Cited• http://en.wikipedia.org/wiki/Ichthyosis• http://www.dermnet.org.nz/scaly/ichthyosis.html• http://ghr.nlm.nih.gov/condition/harlequin-ichthyosis• http://emedicine.medscape.com/article/1198130-overview• http://emedicine.medscape.com/article/1112753-treatment• http://www.skintreatmentcream.com/ichthyosis/

可怕的照片！ Warning, what you are about to see is very…

well…ehhh….

Red……

Mild Cases

Harlequin Ichthyosis( Severest)

कु� छ जल्दी� तथ्यों�on Harlequin Ichyosis

• Severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.

• Mutations in the ABCA12 gene cause harlequin Ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis).

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