Cicatricial Pemphigoid at a Glance
- A chronic autoimmune subepithelial blistering disease characterized by erosive lesions of mucous membranes and skin that result in scarring.
- Lesions commonly involve the oral and ocular mucosae; other sites that may be involved include the nasopharyngeal, laryngeal, esophageal, genital, and rectal mucosae.
- A rare disorder, occurring in one person per million annually; females are affected 1.5–2.0 times as often as males.
- A progressive disorder that may result in serious complications (e.g., blindness, loss of the airway, esophageal stricture formation).
- Immunopathologic studies of perilesional mucosa and skin demonstrate in situ deposits of immunoreactants in epithelial basement membranes; circulating antibasement membrane autoantibodies are detected in sera of some but not all patients.
- A variety of different autoantigens are recognized by autoantibodies from patients, suggesting that cicatricial pemphigoid is not a single nosologic entity but rather a disease phenotype.
Cicatricial pemphigoid (alternate designation: mucous membrane pemphigoid) is a rare chronic autoimmune subepithelial blistering disease characterized by erosive lesions of mucous membranes and skin that result in scarring of at least some sites of involvement.1–6
Cicatricial pemphigoid has been estimated to occur in approximately 1 person per million annually; females are affected 1.5–2.0 times as often as males.7–9 Cicatricial pemphigoid has a mean age of onset of the early to middle 60s.9 Although there is no known racial or geographic predilection, the HLADQB1*0301 allele has been shown to be significantly increased in frequency in patients with oral, ocular, and generalized bullous pemphigoid; amino acid residues at positions 57 and 71 to 77 of the DQB1 protein may represent a disease susceptibility marker.1,10–14
Autoantibodies directed against autoantigens in epidermal basement membrane are held responsible for the pathogenesis of cicatricial pemphigoid (Fig. 57-1).15 A variety of different autoantigens are recognized by circulating autoantibodies from these patients.1,16–31 These and other findings have led to the idea that cicatricial pemphigoid is not a single nosologic entity but rather a disease phenotype. Autoantigens recognized by immunoglobulin G (IgG) autoantibodies from patients with cicatricial pemphigoid are summarized in Table 57-1. While autoantibodies directed against some of these autoantigens have been shown to be pathogenic in vivo (Table 57-1), it is conceivable that other mechanisms may contribute to the pathogenesis of cicatricial pemphigoid. For example, recent studies have demonstrated high stromal expression of IL-13 in CD3+ T cells from patients with ocular cicatricial pemphigoid and that these cells may contribute both profibrotic and proinflammatory stimuli to conjunctival fibroblasts.39
Direct immunofluorescence microscopy of normal-appearing perilesional skin from a patient with cicatricial pemphigoid shows continuous linear deposits of C3 in the epidermal basement membrane.
Table 57-1 Major Cicatricial Pemphigoid Autoantigens