Our skin acts as a barrier between our external surroundings and our organs- it helps us keep ourselves hydrated, but with some specific diseases the barrier is damaged and often results in skin diseases. One of these notorious skin conditions is known as ichthyosis- where the process of synthesizing lipids malfunctions and leads to irritation and scaly appearance on the skin. Ichthyosis is harmful because it often leads to secondary infections.
It is tough finding a treatment for ichthyosis because most treatments are ineffective. The study was led by Elizabeth Mauldin from Penn’s School of Veterinary Medicine, University of Pennsylvania and was a unique research into the field of tropical therapy. Mauldin and her team worked with dogs who were born with a type of ichthyosis and tried to study the cellular and metabolic basis and utilized the data acquired to look more into the lipid deficit. The team used a lotion on the skin of dogs and restored the corneocyte lipid envelope (CLE)- which is usually missing in patients suffering from ichthyosis.
According to Mauldin, the team was able to ‘reform’ the CLE and recreate its structure. The study was published recently in the journal American Journal of Pathology. Mauldin first started investigating the disease in 2007, in a litter of affected bulldogs. Her team discovered that the gene NIPAL4, also known as ichthyin had a mutation- and later a very similar mutation was seen in a human patient. Because of the mutation, both humans and dogs lacked the NIPAL4 protein. “This was a study aiming for a pathogenesis-based therapy,” Mauldin explains. “If we could figure out what was wrong, then perhaps we could bypass the problem and topically correct the phenotype.”
Researchers found out that skin disorder functioned quite similarly in both dogs and human beings- the skin starts losing water at a very high rate. Dogs also showed the lack of a lipid called omega-hydroxy ceramide- hence the extreme dehydration. The team found out that the non-esterified free fatty acids which was probably the body’s response to the deficit in lipid production- but these fatty acids tend to remove more water from the cells from the epidermis.
The team has produced a lipid-containing lotion in collaboration with the Korean company Neopharm that will help restore CLE.