The condition known as Harlequin Ichthyosis is a rare one, and it affects the child when it is still in the womb. The condition is genetic, and not many cases have been reported. This condition is characterized by the thickening of the skin, about 10 times thicker, since it grows at a very rapid pace. The skin is cracked, and the child is covered in a “jigsaw puzzle” of armor-like skin.
The fissures surrounding the skin are a source of a lot of infection, and there is also the risk of getting dehydrated, since there is a lot of loss of water. The child is also less capable of managing the environmental temperatures. Sometimes the child will find it hard to breathe due to the thick plate of skin over the chest. The fingers and toes of the child, may suffer permanent damage due to this rapid growth of skin. The eyelids of the child are heavy, and they may turn inside out.
The child has to undergo constant care to avoid infection, and also to ensure that the skin is properly hydrated. The mortality rate of this disease is very high, and very few children reach the age of 1. If a child manages to get through the first year, then the prognosis improves.
The mutation of the gene ABCA12 is the one that causes the skin to grow rapidly. This gene is found in the upper layer of the skin, and thoughts its purpose is not well know, scientists believe that it is the one that is responsible for the transport of lipids and also the differentiation of the skin’s cells.
Since Harlequin Ichthyosis is a very rare condition, there has been very little research to find ways of dealing effectively with the condition. There has been a movement to look for ways of treating the condition using gene therapy.
Symptoms of Harlequin Ichthyosis
Children born with this condition have deformities in the face and head, and they may have poorly formed ears, or they may be absent altogether. The area around the eyes is prone to infection since the eyelids are inverted, and the eyes may bleed upon birth. The child will seem to be having a wide grimace since the skin around the lips will be severely pulled apart. The child may find it hard to fold the fingers, toes, arms and feet, since the thicker skin will not bend easily. The fingers tend to be widely apart, and this makes it very hard for the child to grasp anything. Children suffering from this condition, mostly have more toes and fingers than normal.
It is only though physical examination and genetic testing, that doctors can diagnose this condition. This can be noticed when the child is in the womb through the use of ultrasound. If the scans show an abnormal pattern in the skin, then the doctor will perform a 3D scan to make sure of his findings. If both scans are not definitive, then the doctor will ask for a genetic test. With genetic testing, the results are conclusive, since the doctor will see the mutation of ABCA12. The doctor can also do a skin biopsy, which will show if the cells are growing at an abnormally high rate.
As mentioned earlier, this disease was fatal in the past, due to sepsis, dehydration, and the difficulty in breathing caused by the plates. The main cause of death, however, was the sepsis, and many children would die within a few days. Today, doctors use retinoids, to help care for the children. In 1984, one child was born with the disease and is reported to be living quite well. The early use of oral retinoids has led to a higher survival rate.
Harlequin Ichthyosis Survivors
Due to the rarity of this condition, many people do not know about it, and those who have lived are well documented. So far, there are three well noted cases of survivors; Nusrit Shaheen, was born in 1984, and lives in the UK. Four of her siblings contracted the disease and passed away. She now is one of three children in their family. The other two do not suffer from this condition. Hunter Steinitz, was born in 1994, lives in the USA, and has been mentioned in National Geographic. He is one of the twelve people in the USA who have this condition. Ryan Gonzalez is another American living with the condition, and he was born in 1986, making him the oldest American with this condition.
This condition has made people tend to shy away from the sufferers, thinking that the condition is contagious. This is not the case, and there have been campaigns to sensitize people about this terrible condition, that cuts short the lives of many innocent babies.