title: [Hereditary epidermolysis bullosa: clinical and ultrastructural analysis of 21 cases].
abstract: Hereditary epidermolysis bullosa (HEB) constitute a genodermatosis group with variable clinical severity. The aim of the study was to confront the diagnosis established by electron microscopy (EM), with the clinical presentation and evolution, genetic analysis and immunofluorescence, and to observe if there was concordance. Biopsies diagnosed as HEB in the last 15 years, were retrieved from the database of the C.H.U. Saint-Pierre EM lab. Each corresponding medical file was reviewed and the following data were recorded: date of birth, sex, age, age at biopsy, ultrastructural characteristics, degree of certainty regarding the EM diagnosis, family history, clinical lesions and their evolution as well as other diagnostic tests performed. 21 patients, aged 1 day to 26 year old were included. A HEB simplex was diagnosed in 10 cases, a junctional EBH in 5 cases and a dystrophic HEB in 6 cases. Immunofluorescence was requested in 4 cases. 7 patients benefited from a genetic analysis. Physical examination revealed hyperpigmented spots in 1 case. A patient with dystrophic HEB had a family history of symptoms restricted to the nails. 4 patients died. In conclusion, the accurate clinical diagnosis of the HEB sub-type is difficult because of the symptomatology heterogeneity. EM remains the gold standard for diagnosis even if immunofluorescence and genetic analysis should be more systematically considered.
authors.affiliation: Département interhospitalier de Dermatologie des C.H.U. Brugmann, C.H.U. Saint-Pierre et H.U.D.E.R.F, Bruxelles.
authors.forename: A
authors.initials: A
authors.lastname: Heuschling
authors.forename: C
authors.initials: C
authors.lastname: Dangoisse
authors.forename: S
authors.initials: S
authors.lastname: Harag
authors.forename: J
authors.initials: J
authors.lastname: André
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D024143:Collagen Type VII / Q000235:genetics; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012189:Retrospective Studies; D012867:Skin / Q000648:ultrastructure*; D055815:Young Adult
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII