title: Chronic keratoconjunctivitis associated with congenital dyskeratosis and erythrokeratodermia variablis. Two rare genodermatoses.
abstract: OBJECTIVE
  The purpose of the study was to report the ocular manifestations and immunohistopathologic description of two rare forms of genodermatosis: congenital dyskeratosis (CD) and erythrokeratodermia variabilis (EKV).
  
  
  METHODS
  Case reports.
  
  
  METHODS
  Two patients with CD and EKV presenting with chronic keratoconjunctivitis were studied.
  
  
  METHODS
  Clinical photography to show ocular manifestations and dermatologic findings was performed. Conjunctival biopsy was performed to determine the histopathology and immunohistopathology.
  
  
  RESULTS
  In the patient with EKV, the eyelid skin was dry, erythematous, and thickened. The lid margins showed plugging of some of the Meibomian glands, madarosis, and occasional trichiasis. The epibulbar conjunctiva was injected and had a moderate papillary reaction. Both corneas had pronounced vascularization and stromal scarring. Conjunctival biopsy results disclosed a striking number of degranulating mast cells and moderate numbers of plasma cells. Immunohistopathology showed pronounced immunoglobulin G (IgG)-positive cells in the stroma and immunoglobulin A (IgA) positivity in the epithelium. There was scattered immunoglobulin M (IgM) and moderate C3 and C4 positivity in the stroma. In CD, the patient had keratinized lid margins, entropion formation, trichiasis, cicatrizing conjunctivitis, and symblephra formation. The corneal surface was keratinized, with deep and superficial vascularization. Conjunctival biopsy specimens showed pronounced epithelial keratinization and squamous metaplasia. Degranulating mast cells and eosinophils were prominent in the stroma. Immunohistopathology showed C4 and immunoglobulin D positivity on the keratinized epithelial surface with rare foci of immunoglobulin E-positive cells. Basal epithelial cells were positive for IgA and IgG, and a large number of IgA and IgG plasma cells were present in the substantia propria.
  
  
  CONCLUSIONS
  To the authors' knowledge, these case reports represent the first clinical description of the ocular manifestation of EKV and the first immunohistopathologic description of the affected conjunctiva in EKV and CD, both of which should be considered in the differential diagnosis of genodermatosis associated with chronic keratoconjunctivitis.
authors.affiliation: Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: A
authors.initials: A
authors.lastname: Merchant
authors.forename: T Z
authors.initials: TZ
authors.lastname: Zhao
authors.forename: C S
authors.initials: CS
authors.lastname: Foster
mesh_terms: D000293:Adolescent; D002908:Chronic Disease; D003176:Complement C3 / Q000276:immunology; D003181:Complement C4 / Q000276:immunology; D003228:Conjunctiva / Q000276:immunology / Q000648:ultrastructure; D003873:Dermatitis, Exfoliative / Q000150:complications* / Q000235:genetics / Q000473:pathology; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000235:genetics / Q000473:pathology; D004847:Epithelial Cells / Q000276:immunology / Q000648:ultrastructure; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007637:Keratoconjunctivitis / Q000209:etiology* / Q000276:immunology / Q000473:pathology; D008297:Male; D008407:Mast Cells / Q000276:immunology / Q000473:pathology; D008875:Middle Aged; D010950:Plasma Cells / Q000276:immunology / Q000473:pathology
chemical_list: D003176:Complement C3; D003181:Complement C4; D007136:Immunoglobulins