Tuesday, May 25, 2010

Doctors, med students, anyone! "Alien Baby syndrome"?

I have a question on Congenital ichthyosis, harlequin fetus/baby syndrome, or as some people on the internet call "alien baby syndrome". I'm aware of the condition on a small scale. I know it usually causes the baby to be born prematurely and causes horrible pretty much unbelievable deformities. The armor slimy like skin, red or orange eyes, enlarged mouth. What are the root causes of this? How long can the baby survive? What's the longest a baby has survived? Is it possible to treat it if caught in developmental stages of the fetus?
Answer:
The condition itself is genetic, It arises usually due to mutation in the chromosome 17p. It can also be inherited. The mutant allele is recessive (which means that the gene can be carried without the bearer actually exhibiting the symptoms) There are a lot of different cases of gene expression, Harlequin ichthyosis is the most severe form. You've outlined it pretty well above in saying that the baby is born prematurely with 'armour-like' skin, this leads to problems such as respiratory distress, problems with feeding, and systematic infection. Other expressions of the gene are less severe, such as lamellar IchthyosisApparently the child can survive a long time, depending of the severity of the symptoms. The symptoms themselves can be treated with a variety of techniques. Though, as the Condition is genetic, it is practically impossible to cure.That's about as straightforward, and accurately as I can put it. I'm only a simple biology student :p. It just interested me so I read up on it.
Harlequin-type ichthyosis (also harlequin ichthyosis, ichthyosis congenita, or keratosis diffusa fetalis), 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 appears as massive, diamond-shaped scales. 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 womb 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.
Treatment and prognosis
In the past, the disorder was invariably fatal, whether due to dehydration, infection (sepsis), restricted respiration due to the plating, or other related causes. The most common cause of death was systemic infection, and few sufferers survived for more than a few days. However, there have been improvements in care, most notably the drug Isotrex, and some patients have survived into adolescence and, in very rare cases, to adulthood.
Like you said, most babies with this are born early and their life expectancy is unknown. The infant mortality rate is very high. Because the skin barrier is abnormal, infants often die of infection, such as sepsis. They are also at risk of "failure to thrive," not getting enough food/nutrients to keep healthy.
However, survival to age 14 years is reported.
Causes include genetic factors: "Mutations in a gene known as ABCA12 ... in chromosome region 2q35, underlie this disorder."
There is more information on the following page:

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