A team of researchers from Nagoya University Graduate School of Medicine in Japan have achieved successful treatment of the skin conditions epidermolytic ichthyosis (EI) and ichthyosis with confetti (IWC) by transplanting genetically healthy skin to the affected areas. This innovative approach could potentially lead to a new and more effective treatment strategy for these skin disorders. Transplanting healthy skin to inflamed areas has been a known treatment option for severe burn injuries.
ies. This approach was originally used for common diseases and has now been extended to rare diseases, offering potential for a new and effective treatment strategy for these challenging skin conditions. The study was featured in the British Journal of Dermatology.
EI and IWC are uncommon genetic skin disorders caused by mutations in either KRT1 or KRT10, the two genes responsible for producing keratin in the skin. Since keratin plays a crucial role in maintaining skin integrity, these mutations result in delicate skin that forms blisters and thick, scaly patches.
Some patients with these diseases display large areas of healthy skin.The affected areas show signs of improvement, resulting from a process called revertant somatic recombination. This process involves spontaneous genetic changes that correct mutations by altering the genes responsible for the skin condition, ultimately causing the affected areas to return to a healthy state.
These findings were made by a group led by Lecturer Kana Tanahashi, Prof. Masashi Akiyama, and Associate Prof. Takuya Takeichi. They discovered that revertant somatic recombination could be used for an innovative therapy. This involved creating grafts known as cultured epidermal autografts (CEAs), which contain genetic mutation corrections that promote healthy skin. These corrected skin cells were then grafted onto the affected areas.s, outbreaks of the disease could be controlled.
Researchers assessed the possibility of implanting CEAs that were created using revertant epidermal keratinocytes, which lack the keratin mutation, back onto patients. The CEAs were transplanted to the peeling lesions of the patients. Four weeks after the transplantation, two of the patients showed no recurrence of ichthyosis in the entire treated area, and the third patient had no recurrence in over a third (39.52%) of the affected area.
Despite the initial success, all three patients experienced some recurrence of ichthyosis at the transplant sites 24 weeks after the transplantation.The researchers found that the technique is most effective for reducing symptoms when the disease is severe and for treating specific local symptoms in areas that impact quality of life.
The research represents a major advancement in the search for effective treatments for EI and IWC. By harnessing the body’s natural genetic correction mechanisms, researchers have shown a new and promising treatment. Their study paves the way for more research and clinical trials to improve the approach and expand its benefits to more patients, providing hope for those suffering from these difficult skin disorders.
