Junctional epidermolysis bullosa

GeneReviews entry on Junctional Epidermolysis Bullosa.

Yuen WY, Duipmans JC, Molenbuur B, Herpertz I, Mandema JM, Jonkman MF. Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa. Br J Dermatol. 2012 Aug;167(2):374-82.

In conclusion, the symptoms and complications of JEB-H are so severe that they are lethal in early childhood, with failure to thrive and respiratory failure as the most common causes of death. The pattern of initial weight gain is a predictor of lifespan in these patients. As life-saving treatments do not promote survival in JEB-H, the management of these patients should be shifted from invasive medical treatments
to comfort care as soon as the diagnosis with its lethal prognosis is known. The palliative end-of-life care can take place in hospital, but is also safe in the home setting.

Full-text for Children’s and Emory users.

Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010 May 28;5:12.

Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, respectively. Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Each EB subtype is known to arise from mutations within the genes encoding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis. EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis. Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB subtype and the overall health of the patient.

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Denyer JE. Wound management for children with epidermolysis bullosa. Dermatol Clin. 2010 Apr;28(2):257-64, viii-ix.

“In general, dressings such as soft silicone and foams that aid healing in other types of EB provide comfort, but do not appear to be effective in those with Herlitz Junctional EB. In the author’s experience the best form of management is to use a lipidocolloid dressing to cover open wounds, and use hydrogel-impregnated gauze as a secondary dressing (see Table 2 ) which is then secured with tubular bandage that must be cut shorter than the secondary dressing to avoid blistering from the edges of both the dressing and retention agent. The hydrogel dressings should be changed as soon as they begin to dry out, but the primary dressing can be left in place for several days. Successful healing has resulted from this method and despite progressive cachexia and dysphasia, infants have maintained largely intact skin throughout life.”

Full-text for Children’s and Emory users.

Fine JD, Johnson LB, Weiner M, Suchindran C. Cause-specific risks of childhood
death in inherited epidermolysis bullosa. J Pediatr. 2008 Feb;152(2):276-80.

“Taken together, our data demonstrate that the risk of death among EB infants and children differs markedly by EB subtype in terms of specific cause, magnitude of risk, and timing of onset. It is also clear that most children with EB who survive the first 12 to 24 months of life will live into at least adulthood, provided that meticulous, aggressive medical care is provided.”

Full-text for Children’s and Emory users.

More PubMed results on JEB.

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