You’ve heard of kidney transplants. You’ve heard of liver transplants. And you’ve probably even heard of lung transplants. But have you heard of skin transplants?

In many cases, skin transplants (or skin grafts, as they’re often called) are used for severe burn injuries or closing large open wounds. But a research team is exploring skin grafting as a possible treatment for epidermolytic ichthyosis and ichthyosis with confetti, two forms of a rare genetic skin disorder called ichthyosis.

An article in News Medical discusses how the research team began their study through examining the concept of revertant skin. Some people with ichthyosis have patches of healthy skin caused by revertant somatic recombination. A 2009 article published in The New England Journal of Medicine explains that:

Revertant mosaicism occurs when an inherited disease-causing mutation is corrected by a spontaneous genetic event within a somatic cell, followed by expansion of this reverted cell.

Essentially, a spontaneous genetic change causes the disease-causing mutation (in this case, the mutation causing ichthyosis) to revert back to normal, allowing people to have healthy areas of skin again.

Study Findings

In findings published in the British Journal of Dermatology, the research team highlighted how they created genetically modified cultured epidermal autografts, skin grafts that are typically sourced from a person’s own skin. In this case, the researchers derived the cultured epidermal autografts from revertant epidermal keratinocytes (cells without the keratin mutation that causes ichthyosis). They then transplanted the skin onto areas of the body where people with ichthyosis had skin lesions.

While initial response to treatment was promising, all participants experienced lesion recurrence within 24 weeks. As such, the research team believes that cultured epidermal autografts could be used to reduce severe symptoms associated with ichthyosis. However, it is possible that future research builds upon the findings from this study to identify novel, effective, and adequate treatment options for people with epidermolytic ichthyosis and ichthyosis with confetti.

About Ichthyosis

Ichthyosis refers to a group of rare genetic skin diseases that are caused by varied gene mutations. These mutations typically cause abnormal keratinocyte behavior on the outermost layer of the skin, which leads to thick, dry, scaly skin. There are multiple forms of this disease. Outside of those mentioned, other forms include ichthyosis bullosa, lamellar ichthyosis, X-linked ichthyosis, and ichthyosis vulgaris.

Certain symptoms and the severity of those symptoms may differ based on which specific disease subtype someone has. What I can tell you is that common shared symptoms can include:

• Scaly, dry skin on the trunk, legs, scalp, buttocks, and stomach
  • While patches of dry skin can appear elsewhere, these are the most common places to see the condition manifest.
  • Scales may differ in color. Some are deep, dark, and cracked; others are fine and white.
• Itchiness
• Reddened skin
• Thickened soles and palms that can cause difficulty moving

In severe ichthyosis, people may experience ectropion (difficulty closing the eyes due to skin tightness), blocked pores that cause difficulty sweating, poor hair growth, an increased risk of infection, and skin abrasions.