title: Cicatrising conjunctivitis with anti-basement membrane autoantibodies in ectodermal dysplasia.
abstract: OBJECTIVE
  To report circulating and mucosa-deposited anti-basement membrane zone autoantibodies in a series of six ectodermal dysplasia patients with severe bilateral cicatrising conjunctivitis and blindness due to both corneal disease and intractable surface inflammation. We also report clinical improvement with steroid-sparing systemic immunosuppression combined with clearance of bacterial colonisation.
  
  
  METHODS
  Conjunctival and buccal immunohistopathology, and serological analysis using a panel of epithelial basement membrane zone proteins including the bullous pemphigoid antigen 180 (BP180) were carried out as part of an ocular pemphigoid work-up in each patient. The degree of photophobia, conjunctival inflammation and visual acuity were monitored to evaluate the response to immunosuppression. The mean duration of follow-up was 31 (SD 6) months.
  
  
  RESULTS
  Four of the six patients showed positive immunopathology: direct immunofluorescence testing of the conjunctiva in one patient demonstrated linear IgA deposition along the basement membrane zone, and IgG and IgM in the buccal mucosa of another patient. Circulating autoantibodies to BP180 were detected in two other patients. Treatment with systemic immunosuppression, combined with clearance of bacterial colonisation, reduced the severity of photophobia and degree of conjunctival inflammation in 5/6 (83%) patients.
  
  
  CONCLUSIONS
  Systemic immunosuppression, used as steroid-sparing therapy, combined with clearance of bacterial colonisation can control inflammation and disabling photophobia, and allow improvement in vision, in a subgroup of ectodermal dysplasia patients who have severe cicatrising conjunctivitis which shares clinical and immunopathological features with ocular mucous membrane pemphigoid.
authors.affiliation: Cornea and External Diseases Service, Moorfields Eye Hospital, London, UK. v.saw@ucl.ac.uk
authors.forename: V P J
authors.initials: VP
authors.lastname: Saw
authors.forename: J K G
authors.initials: JK
authors.lastname: Dart
authors.forename: C
authors.initials: C
authors.lastname: Sitaru
authors.forename: D
authors.initials: D
authors.lastname: Zillikens
mesh_terms: D000328:Adult; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D001323:Autoantibodies / Q000276:immunology*; D001324:Autoantigens / Q000276:immunology; D001485:Basement Membrane / Q000276:immunology* / Q000382:microbiology; D001766:Blindness / Q000382:microbiology; D003229:Conjunctival Diseases / Q000188:drug therapy / Q000276:immunology*; D003234:Conjunctivitis, Bacterial / Q000150:complications* / Q000188:drug therapy; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000276:immunology; D005123:Eye / Q000382:microbiology; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D024041:Non-Fibrillar Collagens / Q000276:immunology; D010390:Pemphigoid, Benign Mucous Membrane / Q000276:immunology* / Q000382:microbiology; D016896:Treatment Outcome; D000097805:Collagen Type XVII
chemical_list: D000900:Anti-Bacterial Agents; D001323:Autoantibodies; D001324:Autoantigens; D007166:Immunosuppressive Agents; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII