FAQ - Ichthyosis, X-Linked
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My fiance has X-linked recessive ichthyosis does this mean I could now carry the condition?

Obviously I mean is it sexually transmitted, or does he just carry it and it would be passed down to our children? I know it is passed down through the females, but I don't know much more.

No you won't get it. However, if you have the recessive gene as well, you run the risk of having children with the disease.  (+ info)

Is it possible for females to get X-linked ichthyosis?

I've got a feeling I've got it. One of the back of my legs looks scaly and dark, and it feels dry. It looks similar to the pictures I've seen.

It's possible, but much less likely than a male getting it. Basically, both of your parents would need to be carriers or affected. Your Dad would definitely have it. In actuality due the genetic nature of it, there are a few other ways a female could be affected too. It's my guess you're probably just psyching yourself out by looking at pictures, so the best way to know is to have a doctor check it out.  (+ info)

how is ichthyosis inherited?

is it sex-linked recessive gene? autosomal recessive? autosomal dominant?

there are different kinds of ichthyosis; some are aut. dominant, others, recessive, others Xlinked. So, you'd have to specifiy which type you're talking about.  (+ info)

Ichthyosis Question?

Please explain in detail:

What are the genetic causes of the disease ( sex-linked, chromosomal or genetic mutation? )

I have included the website for the Foundation for Ichthyosis and Related Skin Types. Learn how to use google when doing homework!  (+ info)

Question about disease PLEASE ANSWER?


Does this disease have any other names?

What's the mode of inheritance for this disease? (autosomal or sex-linked?
dominant or recessive?
chromosomal error? damaged chromosome?
multifactorial where environment and genes are a factor?)

Please answer!

Ichthyosis does have other names all beginning with ichthyosis
Ichthyosis congenita- exfoliation of the newborns skin
Ichthyosis fetalis, Lamellar exfoliation of the newborn
ichtyosis fetus, Harlequin fetus is another name.
Ichthosis simplex also vulgaris, -Hereditary skin disorder characterized by large dry, dark scales that cover the face, neck, scalp, ears, back, and extensor surfaces but not the flexor surfaces of the body. This condition is transmitted as an autosomal dominant trait: not present at birth, it appears several months to one year afterward.

Harlequin Fetus-An infant whose skin at birth is completely covered with thick, horny scales that resemble armor and are divided by deep red fissures. This condition is the most severe in form of lamellar exfoliation of the new born and the infant is still born or dies within a few days of birth.

Lamellar exfoliation of the newborn-A congenital skin disorder transmitted as an autosomal recessive trait in which a parchmentlike, scaly membrane that covers the infant peels off within 24 hrs. of birth. Complete healing or a progressively less severe process of reforming and shedding of the scales then occurs.
Hope this helps you with your homework.  (+ info)

Have you ever seen a 'harlequin baby'?

Everything that you see in this link is real, harlequin ichthyosis is basically the worst genetic skin disease you can possibly get.
I ask this question in all seriousness, it is not a joking matter.
Have any of you actually seen a real harlequin baby before?

no I hadnt, and it made me cry, look at those innocent darling poor babies, heart wrenching.  (+ info)

Could someone research......?

I need to do a 2 page essay on harlequin ichthyosis but I'm seriously terrified of coming across a picture.
Is there any way someone could copy and paste info for me or send a link of a site with no pictures?
I know, I'm a horrible person, but there are just certain things I can't bear to look at, and harlequin ichthyosis, among many other skin disorders, is one of them.

Harlequin Ichthyosis is a very rare, incurable, genetic skin condition. In it, the skin grows far faster than normal. The whole body becomes completely encased in a very thickened, scaly suit of skin armour. The skin becomes very tight causing restriction of movement of the arms and legs and, particularly, the fingers and toes. The face is deformed, the eyelids are inverted, the ears are bound down, and the mouth is very tight.

Lucy Betts, at eighteen years old, is the oldest surviving harlequin ichthyosis sufferer in Britain. Her survival is down to a life-saving ritual of scrubbing, bathing and creaming to keep the skin growth under control. Correction: apparently Nusrit "Nelly" Shaheem, born 1984, is older.

Harlequin ichthyosis only occurs when both parents carry the same defective gene, the chances of this are one in a million. However, the chance of these parents producing a harlequin child are 1 in 4. Despite these odds, the Betts chose to have a second child. Sadly they could not defy the odds and Hannah was born, also with harlequin ichthyosis but with the added complication that she also has cerebral palsy.

Overnight, Lucy and Hannah's bodies grow as much skin as a normal body would grow in 14 days. Every morning and every night they have to bathe for up to 2 hours. The top layers of excess skin have to be rubbed off and softened with skin cream to prevent it cracking and causing infection. This can be a very painful process which the girls have undergone since birth. Between them, Hannah and Lucy use one 12kg tub of skin cream every 5 days.

The condition has affected Lucy's sight leaving her blind in one eye with only 10% vision in the other. This has been caused by the flaking skin behind the eyelid which scratches the cornea.

For years, the Betts believed they were the only harlequin family in Britain, but when Lucy was ten, they found out to the contrary.

The Bowen family gave birth to Dana who has the harlequin skin condition, they too chose to ignore the odds and have a second child. Lara was born with the same dreadful skin condition.

Dr David Atherton a consultant paediatric dermatologist says: "Most children with harlequin ichthyosis die within a few days of birth. The first big problem they have is massive fluid loss. The main purpose of skin is to keep liquid in th body so many, in the past, died of renal failure in infancy."

Dana Bowen was unfortunate, the skin on her fingers and toes was extremely tight, early on, and interfered with the blood flow so she has lost the tips of several of her fingers.

Eight years after their first meeting, the harlequin families come together again. There has been a medical breakthrough and for the first time the families have been given hope of a possible cure.

All four girls have been involved in a world-wide research project. Last year they supplied DNA samples for analysis, and now the results are due to be released. Scientists have managed to identify the harlequin gene and identified a defective protein in all of the girls. They believe a fat can be added to the skin cream they use to compensate for the defective protein and slow the skin growth.

They also revealed that both families share the same genetic mutation meaning that, in the distant past, they are related.

ths site has no pics:

Harlequin-type ichthyosis (also harlequin ichthyosis, ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, and Harlequin fetus[1]:562), a skin disease, is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin. In sufferers of the disease, the skin contains massive, diamond-shaped scales, and tends to have a blue color. In addition, the eyes, ears, mouth, and other appendages may be abnormally contracted. The scaly keratin greatly limits the child's movement. Because the skin is cracked where normal skin would fold, it is easily pregnable by bacteria and other contaminants, resulting in serious risk of fatal infection.

Sufferers are known as harlequin fetuses, harlequin babies, or harlequins.

The harlequin-type designation comes from both the baby's apparent facial expression and the diamond-shape of the scales (resembling the costume of Arlecchino), which are caused by severe hyperkeratosis. The disease can be diagnosed in the uterus by way of fetal skin biopsy or by morphologic analysis of amniotic fluid cells obtained by amniocentesis. In addition, doctors can now usually recognize common features of the disease through ultrasound, and follow up with 3D ultrasound to diagnose the condition.

The disease has been known since 1684, and was first described in the diary of a cleric from Charleston, South Carolina, the Rev. Oliver Hart:

"On Thursday, April 5, 1684, I went to see a most deplorable object of a child, born the night before of one Mary Evans in 'Chas'town. It wa  (+ info)

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