title: Herlitz junctional epidermolysis bullosa: a case report and review of current diagnostic methods.
abstract: We report an infant with Herlitz junctional epidermolysis bullosa (JEB) presenting at birth with erosions on the scalp, thigh and periumbilical area in addition to nail abnormalities. Ultrastructural studies demonstrated a split through the lamina lucida with poorly formed hemidesmosomes and no clearly defined subbasal dense plates. Indirect immunofluorescence staining with antibodies GB3 (antilaminin 5) and 19-DEJ-1 (antiuncein) was totally absent. These findings, in combination with the clinical picture, favor a diagnosis of Herlitz JEB. Immunohistochemistry findings greatly facilitated an accurate diagnosis, which is essential in view of the poor prognosis for patients with this form of junctional epidermolysis bullosa.
authors.affiliation: Department of Dermatology, Ealing Hospital NHS Trust, Middlesex, England.
authors.forename: T
authors.initials: T
authors.lastname: Basarab
authors.forename: M G
authors.initials: MG
authors.lastname: Dunnill
authors.forename: R A
authors.initials: RA
authors.lastname: Eady
authors.forename: R
authors.initials: R
authors.lastname: Russell-Jones
mesh_terms: D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology