title: Extensive acantholysis as the major histological feature of a severe case of Dowling Meara-epidermolysis bullosa simplex: a reappraisal of acantholysis in the newborn.
abstract: Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders characterized by blistering and skin fragility secondary to mechanical trauma. Epidermolysis bullosa simplex (EBS) is the most frequent form of EB, with Dowling-Meara (DM-EBS) subtype being the most severe form in this group. Conventional histopathological evaluation is usually of low value in the diagnosis of EB, and significant histological features have rarely been reported in this group of diseases. We describe a case of severe DM-EBS in which acantholysis was observed in the histological examination. This finding led us to consider other diagnoses, such as neonatal pemphigus vulgaris or lethal acantholytic EB. Histological, immunological, ultrastructural and genetic tests were performed, leading to a final diagnosis of DM-EBS. Therefore, we believe that DM-EBS should be considered in the differential diagnosis of a newborn with blisters, where acantholysis is the main histological feature.
authors.affiliation: Department of Dermatology, Hospital Clínic and University School of Medicine, C/ Villaroel 170, CP: 08036 Barcelona, Spain. chevedarwich@yahoo.es
authors.forename: Esteve
authors.initials: E
authors.lastname: Darwich
authors.forename: Asunción
authors.initials: A
authors.lastname: Vicente
authors.forename: Maria C
authors.initials: MC
authors.lastname: Bolling
authors.forename: Maria A
authors.initials: MA
authors.lastname: González-Enseñat
authors.forename: Victoria
authors.initials: V
authors.lastname: Cusi
authors.forename: Claudia
authors.initials: C
authors.lastname: Fortuny
authors.forename: José A
authors.initials: JA
authors.lastname: Bombí
authors.forename: Marcel F
authors.initials: MF
authors.lastname: Jonkman
authors.forename: José M
authors.initials: JM
authors.lastname: Mascaró
mesh_terms: D003937:Diagnosis, Differential; D016110:Epidermolysis Bullosa Simplex / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007231:Infant, Newborn; D053547:Keratin-14 / Q000235:genetics; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure
chemical_list: C507540:KRT14 protein, human; D053547:Keratin-14