Practical and psychological problems for parents of children with epidermolysis bullosa

Parents of children with epidermolysis bullosa were sent a questionnaire seeking information on problems associated with the condition; 45% replied and their responses are discussed in terms of reported needs. Epidermolysis bullosa (EB) is the name given to a group of distinct, inherited disorders which are manifest as an exceptional liability of the skin to blister and ulcerate following mechanical trauma. There are three principal groups: EB simplex, dystrophic EB and junctional EB. All forms of EB simplex are inherited as autosomal dominant traits. These diseases are generally relatively mild but some patients are sufficiently disabled to prevent their walking more than 200 yards at a time. Dystrophic EB is of variable severity; not unknown are problems such as fusion of the fingers, fixation of the tongue, shrinkage of the mouth and oesophageal stenosis. When severe this is an exceptionally disabling disorder associated with a significant reduction in life expectancy. Junctional EB is always serious and death within the first few years of life, often within the first few weeks, is usual. DEBRA, the Dystrophic Epidermolysis Bullosa Research Association, is a self-help group of sufferers and their families. A questionnaire aimed at eliciting problems associated with this condition was sent to 138 members and their replies form the basis of this paper.