Monday, August 20, 2012
16th of August 2012 10:30 AM DHAS....
I stepped inside the labour room as usual to conduct a normal delivery. The patient who was un-booked and un-investigated did not at all surprise me. It is ok in this part of country where the patient belongs to a rural area. Uterine contractions getting strong and stronger pushing the baby out was all normal. The moment the baby was delivered it left everyone present astonished. I could not believe my eyes. 99% of all the staff members had never seen, such. How could God be so unfair? I discussed with my seniors, looked over Google and found it to be a rare and serious form of congenital skin disorder- Harlequin-type Ichthyosis.
Harlequin-type Ichthyosis (also known as Harlequin baby, Harlequin Ichthyosis, Ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus and Ichthyosis congenita gravior).
It is the most severe form of congenital skin disorder characterized by a thick keratin layer in human skin. The skin contains massive, diamond-shaped scales, with areas of bleeding in between. This is caused by severe hyperkeratosis. The thick scaly keratin, limiting the child's movement results in cracked skin. This makes it easier for micro-organisms to gain access, resulting in serious risk of fatal infection. The whole body in general may be abnormally contracted.
The name harlequin-type is coined because of baby's apparent facial expression and the presence of diamond-shaped scales (resembling the costume of Arlecchino). The disease can be diagnosed in early pregnancy by way of fetal skin biopsy or by morphologic analysis of amniotic fluid cells obtained by amniocentesis. In addition the common features can be recognized through ultrasound, and follow up with a 3D ultrasound to diagnose the condition.
It is associated with a mutation in the gene for the protein ABCA12. Its prevalence rate is <1/1000000 births and inheritance is Autosomal recessive type.
In sufferers there is severe cranial and facial deformities, with poorly developed or absent ears and nose. The severely everted eyelids makes the eye and the area around very susceptible to infection. Bleeding can sometimes be present; giving a fierce look. The lips are fixed into a wide grimace. The extremities are almost always deformed. The thick scales present restricts the movement. The thick keratin layer prevents normal heat loss and can result in hyperthermia. Hypoventilation and respiratory failure can occur as a result of restricted chest wall movement.
Posted by Aashish at 11:26 PM