title: Black patients of African descent and HLA-DRB1*15:03 frequency overrepresented in epidermolysis bullosa acquisita.
abstract: Epidermolysis bullosa acquisita (EBA) is a rare autoimmune bullous disease (AIBD). However, higher EBA incidence and predisposing genetic factor(s) involving an HLA haplotype have been suspected in some populations. This retrospective study assessed the overrepresentation of black patients with EBA, its link with HLA-DRB1*15:03, and their clinical and immunological characteristics. Between 2005 and 2009, 7/13 (54%) EBA and 6/183 (3%) other-AIBD patients seen consecutively in our department were black (P=10(-6)); moreover 7/13 (54%) black patients and 6/183 (3%) white patients had EBA (P=10(-6)). In addition, between 1983 and 2005, 12 black patients had EBA. Finally, among the 19 black EBA patients, most of them had very atypical clinical presentations, 9 were natives of sub-Saharan Africa, 1 from Reunion Island, 7 from the West Indies, and 2 were of mixed ancestry. HLA-DRB1*15:03 allelic frequencies were 50% for African patients, significantly higher than the control population (P<10(-3)), and 21% for the West Indians (nonsignificant). High EBA frequencies have already been reported in American blacks significantly associated with the HLA-DR2. In conclusion, black-skinned patients developing EBA seem to have a genetic predisposition, and EBA should be suspected systematically for every AIBD seen in this population.
authors.affiliation: Department of Dermatology, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), UFR Paris 7, Bobigny, France.
authors.forename: Coralie
authors.initials: C
authors.lastname: Zumelzu
authors.forename: Christelle
authors.initials: C
authors.lastname: Le Roux-Villet
authors.forename: Pascale
authors.initials: P
authors.lastname: Loiseau
authors.forename: Marc
authors.initials: M
authors.lastname: Busson
authors.forename: Michel
authors.initials: M
authors.lastname: Heller
authors.forename: Françoise
authors.initials: F
authors.lastname: Aucouturier
authors.forename: Valérie
authors.initials: V
authors.lastname: Pendaries
authors.forename: Nicole
authors.initials: N
authors.lastname: Lièvre
authors.forename: Francis
authors.initials: F
authors.lastname: Pascal
authors.forename: Marie-Dominique
authors.initials: MD
authors.lastname: Brette
authors.forename: Serge
authors.initials: S
authors.lastname: Doan
authors.forename: Dominique
authors.initials: D
authors.lastname: Charron
authors.forename: Fréderic
authors.initials: F
authors.lastname: Caux
authors.forename: Liliane
authors.initials: L
authors.lastname: Laroche
authors.forename: Antoine
authors.initials: A
authors.lastname: Petit
authors.forename: Catherine
authors.initials: C
authors.lastname: Prost-Squarcioni
mesh_terms: D000293:Adolescent; D000328:Adult; D044383:Black People / Q000235:genetics* / Q000706:statistics & numerical data; D002648:Child; D002675:Child, Preschool; D016107:Epidermolysis Bullosa Acquisita / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D044465:White People / Q000235:genetics / Q000706:statistics & numerical data; D055815:Young Adult
chemical_list: D059811:HLA-DRB1 Chains