Epidermolysis bullosa (EB) is a group of rare genetic disorders that are characterized by fragile skin. Because of its rarity, many neonatologists may not be familiar with the current diagnosis and treatment recommendations for EB. The classification of EB was updated in 2020. The diagnosis of EB is now more heavily based on genetic rather than clinical or histologic features. In this review, we summarize the basic classification of EB, the preferred methods of diagnosis including a panel of next-generation sequencing for all types of EB, as well as specific immunofluorescence and electron microscopy of skin biopsies in special circumstances. We also review the principles of skin care for the newborn with EB and discuss the possible associated comorbidities including infectious, gastrointestinal, respiratory, and genitourinary complications. Lastly, we discuss the approach to educating the family about the diagnosis, prognosis, and care of an infant with EB and describe resources for the successful transition of the infant from the hospital to the home.
Diagnosis and Care of the Newborn with Epidermolysis Bullosa
Drs Lucky, Marathe, and Gorell and Mss Whalen and Rowe have disclosed no financial relationships relevant to this article. This commentary does contain a discussion of an unapproved/investigative use of a commercial product/device. This research was funded by the Epidermolysis Bullosa Research Partnership (EBRP) and The Cooperative (COOP) Society of Cincinnati Children’s Hospital
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Anne W. Lucky, Jean Whalen, Susan Rowe, Kalyani S. Marathe, Emily Gorell; Diagnosis and Care of the Newborn with Epidermolysis Bullosa. Neoreviews July 2021; 22 (7): e438–e451. https://doi.org/10.1542/neo.22-7-e438
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