An unshielded life

Living with lamellar ichthyosis, is a challenge for both the patient and the family


Last month, Jagannath, a 10-year-old boy in Odisha's Ganjam district, was in the spotlight for his unusual appearance. His skin is covered in thick, grey scales that are patchy, rough and hard. Even the skin around sensitive areas such as the eyes is tight, making it extremely painful for him to keep his eyes open. His skin grows fast, hardens and sheds itself every six weeks, like in the case of reptiles, which is why Jagannath is called a human snake in his village. Jagannath was born with lamellar ichthyosis, a rare genetic skin condition. He must bathe every other hour and keep himself moisturised at all times with oodles of cream or oil in a bid to ease the extremely painful pull of a very dry skin. He is often unable to walk properly, and requires the support of a stick.

While Jagannath struggles with the unforgiving nature of the disease on a daily basis, in another continent Jeyza Gary, a model from North Carolina in the United States, flaunts her scaly skin with pride on Instagram. Being comfortable in one's own skin, especially when it looks nothing like the 'normal' one, takes extraordinary courage and self-love. The 21-year-old recently bagged a modelling assignment for a renowned swimwear company. In the post that she shared on Instagram announcing the new assignment, Gary, clad in a yellow bikini with the Californian sun shining brightly on her skin, wrote to her 12,000 followers: “My spicy skin and I went to Cali on a moment's notice and showed out.... Starting the new year off like this!”

Lamellar ichthyosis is a genetic skin disorder that affects one in 2,00,000 people. Children are born as collodion babies, which means their bodies are encased in a tight shiny membrane that resembles a plastic wrap. It is the first expression of some form of ichthyosis. It presents itself at birth or within the first year. According to Christine Wassel, community engagement director at the Foundation for Ichthyosis and Related Skin Types (FIRST), 300 babies with moderate to severe ichthyosis are born every year across the world. “The disease is lifelong,”she said. But not all cases come to the fore. “We have severe cases like that of Jagannath's elsewhere in the country, too,” said Dr Prasanna Shirol, cofounder and executive director, Organization for Rare Diseases India (ORDI). “But only certain cases get reported. Some patients of ichthyosis come from very well-to-do families, and they have the wherewithal to get themselves treated and keep their condition away from prying eyes. [As the condition] spreads to the entire body, continuous bandaging is the only solution. It gets very challenging for the patient and the family.”

We all shed skin flakes on a daily basis. Only we don't notice it as it is microscopic. But in children with lamellar ichthyosis, the skin shed is higher and in chunks because of the mutation of a particular gene—TGM1 (transglutaminase 1), which is found in cells that form the outermost layer of the skin and is involved in the formation of the cornified cell envelope that surrounds skin cells and helps form a protective barrier between the body and its environment. That is why such children are prone to infections. Also, the skin helps control the body temperature. So, if the skin is not intact, there will be wide fluctuations in temperature. And, since the skin does not produce moisture in children with this condition, they are bathed in water mixed with baking soda to maintain the body's PH levels. “In slightly older children, we use creams that have salicylic acid and urea, which help in softening the skin,”said Dr Shireen Furtado, consultant, medical and cosmetic dermatology, Aster CMI Hospital in Bengaluru, who has seen at least two cases of lamellar ichthyosis in her ten-year career.

Typically, mutations are inherited from both father and the mother, but sometimes can occur spontaneously in a foetus, said Dr Ratna Puri, chairman, Institute of Medical Genetics and Genomics, Sir Gangaram Hospital in Delhi. “It is a group of disorders that are inherited in an autosomal recessive [two copies of an abnormal gene must be present for the disease to develop] manner and are congenital—that is the mutations are present at birth, but in some cases symptoms do not become apparent until later in life,” she said. “I have seen a couple of cases in a year and always suggest to parents to go for genetic testing.”