Jahnavi Sarma
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Written By: Jahnavi Sarma | Updated : March 13, 2020 10:40 AM IST
This is a genetic condition that is passed on through autosomal recessive genes. You may inherit the genes but, sometimes, never suffer from it. @Shutterstock
Late last year, there were reports in the media about a boy who was often mistaken for a doll. This was distressing for the mother, who insisted that her baby was a normal boy but for a rare skin condition. He has a rare skin condition that gives him thick scales of skin. Though doctors warned his mother that he will probably not make it beyond the first few weeks of life, he survived and is today 2 years old. But his skin keeps cracking up and his tight skin even caused his eyelids and lips to turn inside out. He needs constant care. His mother applies moisturizer on his skin every four hours and keeps him out of the sun to avoid burns. Even moving is not without danger as it can cause his skin to crack up.
The small boy suffers from a skin condition called Harlequin ichthyosis. It is also known as Harlequin baby syndrome or congenital ichthyosis. It is basically a group of disorders that cause persistently dry, scaly skin all over the body. A baby with this condition is born with thick, diamond-shaped plates that resemble fish scales. It is so debilitating that the infant has trouble eating and breathing.
The hard skin may sometimes make a baby's eyelids turn inside out and he may not be able to close his eyes. The lips are stretched, and this leaves the mouth constantly open. The ears are often fused to the head and hands and feet are swollen. There are mobility issues and the baby is at risk of infection on the cracks in skin. Dehydration and a low body temperature are the other signs of this disease. The severity may change as a child grows up.
This is a genetic condition that is passed on through autosomal recessive genes. You may inherit the genes but, sometimes, never suffer from it. But if you inherit the genes from both your parents, you may also develop the disease at a later stage in life.
This is a very rare condition and only about 1 in 500,000 people are affected by it, according to the National Organization of Rare Disorders.
There is no cure for Harlequin ichthyosis. But with proper care, you can manage this condition. Early and intensive treatment is essential to prevent fatalities. Tube feeding may be necessary to prevent malnutrition and dehydration. Some doctors recommend retinoids to help shed hard, scaly skin and topical antibiotics to prevent infection. A tube may sometimes become necessary to aid in breathing. But you need to keep your skin clean, moist and supple at all times. This is very important.
