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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