DERMATOLOGY
Butterfly Skin : Hope for New Wings
What are the latest advances in treatment for children with a rare skin disease ?
Epidermolysis bullosa ( EB ), also known as butterfly skin disease for the dust-like scales that rub off when touching a butterfly , is a family of rare genetic conditions that causes fragility of the skin and mucosal membranes , leading to very painful blistering and scarring at even the slightest trauma . While there isn ’ t a cure , advances in standards of care have made it possible for patients with severe forms of EB to live into middle adulthood and beyond . Leaning on new research , Children ’ s Hospital Colorado has developed a multidisciplinary program dedicated to creating more effective therapies and ultimately finding a cure .
There ’ s no one-size-fits-all approach to treating EB , in part due to variations of findings between the main EB subtypes ( EB simplex , junctional EB , dystrophic EB and Kindler EB ), which range from mild and localized blistering to severe and debilitating wounds and scarring . Treatments focus on supportive care , consisting of wound care , infection control , nutrition support , pain management and prevention of complications .
“ EB is a delicate and complex condition that requires a specialized multidisciplinary pediatric team , from dermatologists to physical and occupational therapists and even specialized anesthesiologists ,” says pediatric dermatologist Anna Bruckner , MD . “ All our specialists are well-versed in the nuances of caring for patients with EB and understand that a simple mistake , like using tape or regular bandages on the surface of the skin , can be damaging to patients .”
One particularly severe form of EB , recessive dystrophic EB ( RDEB ), is especially challenging to treat . RDEB is caused by a deficiency in type VII collagen ( C7 ), which is responsible for properly connecting the skin ’ s two main layers at the dermal-epidermal junction . In addition to severe wounds , blistering and scarring , patients experience malnutrition , anemia , esophageal strictures , dental problems , and fusion of the fingers and toes due to chronic scarring . These wounds predispose patients to infections , and they can develop into aggressive squamous cell carcinomas in adolescents and adults — a major cause of death among these patients . But there are two very promising therapies on the horizon : focal gene therapy and protein replacement therapy .
FOCAL GENE THERAPY
Ever since gene therapy was deemed both safe and effective ( 1 ), it has been widely viewed as the best option to correct the manifestations of RDEB over the long term . Since an absence or deficiency of C7 is the hallmark of RDEB , focal gene therapies rely on the restoration of C7 to improve the structural and functional
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