Do you know what Harlequin disease is? It is an extremely rare form of genetic skin disease where an infant is born with a particularly thick keratin layer on it’s skin and an abnormal contraction of the ears and the eyes.

Harlequin Disease

The term derived from the appearance of this disease and it’s triangular shaped patterns. In addition to it, the ears of the infant may be under-developed, the feet and arms may be hypoplastic, and in this condition, the mouth of the baby should be pulled wide open.

Because of the thick layer over the skin, there is a high risk of infections, water losses and irregular body temperatures.

The country of India witnessed this disease for the very first time not a long time ago, when a baby girl who was born the previous week was diagnosed with this disease.

The weight of the baby girl was 1.2 kg, and when the doctor who delivered her saw her, he knew what the problem was in an instant.

He explained how the body of the baby is covered in white armour with cracks in order to protect itself, but yet, the baby was born with no ears, the eyes, eyelids and private parts were all contracted.

These babies are prone to infections just because of the fact that their internal organs are exposed. For now, to keep the skin moisturized, the team of doctors applies petroleum jelly on the skin of the baby.

Unfortunately, they are still not certain about whether she has eyeballs or not. Another doctor claims that there is one other case just like this one, that happened in 1984 in Pakistan, and that the girl there lived up to see her 24th birthday. But in these cases, the regular skin does not show, ever.

In most of the cases, when the baby is not born yet, there are some tests that should be done and if there happens to be an enormous anomaly, the pregnancy is terminated on time.

But in this particular case, the family was almost under the normal budget and could not afford the tests. This is why the baby is now under close medical observation.

What basically happens for this disease to occur is the absence of the gene ABCA12. It is the main production of the protein in the body, which ultimately leads to creation of the skin layer.

There are not much cases like this one – only 1 in 300.000. Our prayers go to the family in need.