Neonatal teeth associated with Epidermolysis Bullosa: A case report

Abstract

Introduction: Epidermolysis bullosa (EB) is the generic name given to a collective group of at least 25 hereditary and non-hereditary conditions which produce skin and mucosal blistering of differing severity and presentation. Oral blistering occurs in most forms of the disease. Dental abnormalities include anodontia, enamel hypoplasia and neonatal teeth. Case:A newborn baby girl was referred to the Department of Oral & Maxillofacial Surgery and Dermatology at James Cook University Hospital with extensive blistering on her body and around her mouth. There were multiple neonatal teeth present of which few of them were mobile and had to be extracted. There was no parental consanguinity or family history of blistering. Immunofluorescence Microscopy: Genetic studies showed heterozygous keratin 5 gene mutation confirming EBS of Dowling-Meara subtype (EBS-DM) Discussion: The Dowling-Meara subtype of Epidermolysis Bullosa Simplex (EBS) which presents with extensive blistering is often clinically mistaken for the more severe phenotype of autosomal recessive Epidermolysis Bullosa (EB). The association of natal teeth with EBS is referred to in textbooks but is not substantiated by published evidence and tothe best of our knowledge this is the first confirmed case of EBS-DM with natal teeth.