Infant with a hereditary blistering disorder: an interesting case in the NICU.

Autor:	Tchignaha, Rifkatou, Restivo, Jessica, Szialta, Christina, Nulman, Oksana, Parikh, Abhinav
Předmět:	EPIDERMOLYSIS bullosa INFANTS GENETIC testing GENETIC variation OCCUPATIONAL therapy NEWBORN infants
Zdroj:	Oxford Medical Case Reports; May2024, Vol. 2024 Issue 5, p1-3, 3p
Abstrakt:	This is a case of hereditary skin disorder in a full-term female newborn, with family history of epidermolysis bullosa (EB), who developed skin vesicles on the first day of life (DOL) without mucosal or ocular involvement. A multidisciplinary approach involving dermatology, wound care, and occupational therapy led to full recovery in our patient within six days of life. Special precautions were taken to prevent complications. Upon genetic testing, the patient was found to have a genetic variant of unknown significance (VUS). The goal of this case report is to give a detailed account of the patient's course, provide management recommendations which could be applied to similar cases and settings in the newborn period. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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