Prognosis
In the absence of a true cure for inherited epidermolysis bullosa (EB), treatment is instead directed towards improving the functionality and wellbeing of the patient. The prognosis for most patients with EB simplex (EBS) is excellent, with the exception of EBS, severe where early infant mortality is a risk. In addition, patients with EBS with muscular dystrophy (EBS-MD) may develop progressive muscular dystrophy with increasing age, and those with the rare sub-type associated with KLHL24 mutations may develop life-threatening cardiomyopathy in childhood.
The prognosis for junctional EB (JEB), particularly JEB, severe disease, is poor, with about half of all children dying by 1 year of age, and all but a few dying by 25 years of age.[65]
The prognosis for dominant dystrophic EB is similar to that of EBS, although scarring, disfigurement, and blistering are present throughout life. Among the recessive dystrophic (RDEB) sub-types, the worst prognosis is seen in severe RDEB. There is a lifetime cumulative risk of about 12% by age 35 years for death from chronic renal failure.[84]
Squamous cell carcinoma (SCC) is the major concern in adults with severe RDEB, and to a much lesser extent in patients with other RDEB sub-types and JEB (especially those with intermediate JEB) arising as early as about 12 years of age. By about 50 years of age, nearly 90% will have developed at least one SCC. Of these, about 87% will have died, as a direct result of metastatic SCC, which is unresponsive to radiotherapy and/or chemotherapy.[85]
The prognosis for most patients with Kindler's EB is good.
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