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Mucous membrane pemphigoid

Orpha number ORPHA46486
Synonym(s) Cicatricial pemphigoid
Mucosal pemphigoid
Mucosynechial pemphigoid
Prevalence Unknown
Inheritance
  • Sporadic
Age of onset Adulthood
ICD-10
  • L12.1
OMIM
UMLS -
MeSH -
MedDRA
  • 10057052
SNOMED CT
  • 34250006

Summary

Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.

The prevalence is unknown.

The average age of onset is 60-70 years and the disease appears to be more common in women than in men. Mucous membrane pemphigoid is a chronic disease with periods of more rapid evolution. The disease manifests as fragile bullous lesions that give way to superficial erosions. The principle sites affected are the oral (80-90% of cases), ocular (50-70% of cases), pharyngolaryngeal (8-20% of cases), genital (15% of cases) and oesophageal mucous membranes. Some forms affect only one mucosal membrane, in particular the buccal (erosive gingivitis) or ocular mucosae. An exclusively cutaneous form has also been observed in some cases. The ocular manifestations are initially inflammatory but then lead to retractile scarring of the conjunctive membrane, associated with corneal metaplasia resulting in vision loss.

Immunological studies reveal the presence of auto-antibodies against several antigens such as PB180, the alpha Laminin-5 subunit and the beta subunit of the integrin alpha-6 beta-4 complex. Histologically, the cutaneous or mucosal blisters are subepithelial, without evidence of acantholysis, and are indistinguishable from those of bullous pemphigoid. Diagnosis can be confirmed by direct or indirect immunofluorescence analysis.

Immunological studies reveal the presence of auto-antibodies against several antigens such as PB180, the alpha Laminin-5 subunit and the beta subunit of the integrin alpha-6 beta-4 complex. Histologically, the cutaneous or mucosal blisters are subepithelial, without evidence of acantholysis, and are indistinguishable from those of bullous pemphigoid. Diagnosis can be confirmed by direct or indirect immunofluorescence analysis.

Management should be multidisciplinary with close follow-up in specialised centres, in particular for the management of the ocular manifestations. The choice of therapeutic strategy (anti-inflammatory drugs, immunosuppressive therapy, intravenous immunoglobulins or local treatments) depends in the severity of the ocular disease.

The prognosis also revolves around the ocular manifestations, which may lead to blindness due to scarring of the conjunctive membrane and corneal metaplasia.

Expert reviewer(s)

  • Pr Christophe BEDANE

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Detailed information

Clinical practice guidelines
  • FR (2011,pdf)
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