Epidermolysis bullosa (EB) is a spectrum of rare, inherited, blistering skin disorders, primarily affecting the skin and pharyngoesophageal mucosa. EB affects approximately 2 to 4 per 100,000 children each year. Blistering and scarring occur in response to even the most minor trauma. In this article, the authors outline the potential management options for patients with EB complicated by feeding difficulties secondary to esophageal strictures as well as those with nutritional deficiencies requiring a gastrostomy tube for supplemental feeding.
Epidermolysis bullosa (EB) is a spectrum of rare, inherited, blistering skin disorders, primarily affecting the skin and pharyngoesophageal mucosa. EB affects approximately 2 to 4 per 100,000 children each year. Blistering and scarring occur in response to even the most minor trauma. Broadly speaking, all forms of EB are affected by increased skin fragility and therefore a basic requirement of these children and young adults is satisfactory skin protection and management of wounds. Optimizing skin care can have a dramatic effect on a patient’s quality of life and should be proactively managed by health care workers and the patient’s family in conjunction with the patients themselves.
Wound healing is promoted by several factors including adequate nutrition and a good tissue blood supply, which can be impaired by iron-deficiency anemia. The main indication for surgical intervention in children with EB is generally nutritional failure caused either by mechanical issues, such as esophageal strictures, or an inability to take in adequate calories to maintain an anabolic state in the face of increased metabolic demands placed on them by their skin disease and constant wound healing. Every patient with EB is different and their nutritional status can vary greatly depending on the type of EB and the extent of their disease. Nutritional deficits in recessive dystrophic epidermolysis bullosa (RDEB) frequently involve a vitamin and trace metal deficiency that may not always be corrected with enteral caloric supplementation. Most patients have significant growth retardation, which can be improved with supplemental gastrostomy feedings but these patients may still have significant protein deficiency. Up to 77% of children with RDEB are at risk for significant malnutrition with 86% being underweight. In contrast 57% of children with junctional epidermolysis bullosa (JEB) and 22% of those with epidermolysis bullosa simplex (EBS) are at risk for malnutrition. Most patients requiring surgical intervention in our institution have RDEB, with smaller numbers of patients with JEB and EBS presenting to our EB Center.