Mucous membrane pemphigoid (MMP) is a group of rare chronic autoimmune disorders characterized by blistering lesions that primarily affect the various mucous membranes of the body. Several subtypes are classified based on clinical symptoms/membranes involved and target antigens, such as ocular MMP, localized vulvar pemphigoid, anti-laminin-332 MMP. Autoantibodies are directed against different structural proteins in the skin basement membrane zone, with BP180 as the main target antigen. Other antigens such as laminin-332, BP230, a6B4 can also be targeted by autoantibodies. Clinically MMP is characterized by erosions and blistering of the oral mucosa (85%), conjunctiva (65%), and, less frequently, the nose (20-40%), oesophagus (5-15%), pharynx (20%), larynx (5-10%), and genitals (20%). Clinical severity is highly variable between the differentsubtypes of MMP.

Progressive scar formation is a severe complication in active disease in ocular MMP and anti-laminin-332 MMP, resulting in blindness or upper airway obstruction when not treated fast and accurately. Anti-laminin 332 MMP is associated with an increased risk for malignancy, especially adenocarcinoma. Previously, the term cicatricial pemphigoid (CP) was used synonymously for MMP. However, at present, the term CP refers to the rare clinical subtype with scarring skin lesions. Patients’ and doctors’ delay is frequently seen in MMP. For accurate diagnosis, DIF and detection of circulating autoantibodies in serum is mandatory. Management and prognosis of MMP depends on the severity and extent of the disease and involves local and oral corticosteroids, and (adjuvant) immunosuppressive drugs, and more recently rituximab..

  • Specific challenges associated with the recognition of the condition

Mucous membrane pemphigoid with exclusive oral, genital or ocular lesions is often unrecognized in the early inflammatory stage and often misdiagnosed for other diseases such as lichen planus, lichen sclerosis, Behcet, aphtosis, or infections. The delay of diagnosis is usually 6 months to years, and sometimes exceeds many years. Difficult to treat complications or scarring can be the result.

  • Specific challengesassociated with the diagnosis

Diagnosis of MMP is based on the combination of careful clinical examination of skin and all mucous membranes, and histopathology and direct immunofluorescence of affected mucous membrane and healthy skin. Indirect immunofluorescence and immunoblot are necessary to subtype the MMP. Precise recognition of the different subtypes and autoantigens is necessary for adequate treatment and prognosis.

  • Specific challenges associated with the treatment

MMP is known to be therapy resistant. Fast and aggressive treatment is necessary to prevent the sequelae of scarring in certain types of MMP. First choice treatment modalities consist of dapson, cyclophosphamide, and oral corticosteroids with a steroid sparing adjuvant. Refractory cases may be treated with rituximab (anti-CD20). Moderate to potent topical corticosteroids may aid in treatment effect. A challenge is the formulation of optimal treatment in a stepwise approach for the different types of MMP. Because of the rarity of the disease it is difficult to include large groups of patients to investigate the effectivity of different treatment modalities.

  • Specific challenges associated with care of these patients over their lifespan – Quality of life issues – Gaps across the care continuum

Intake of nutrition and/or fluids can be reduced with weight loss and denutrution as a result. Pain is a prominent feature. Other problems with the several forms of MMP may include bleeding, dysphagia, shortness of breath, hoarseness/loss of voice, dyspareunia, dysuria, caries, poor mouth hygiene, vision problems and even blindness. Scarring as a result of the damage of inflammation is a major problem when the disease is not treated adequately in time. Psychological problems due to above mentioned problems is frequently observed. A multidisciplinary approach with multiple disciplines is very important.

Prevalence : Prevalence unknown, estimations can be made: for Europe between 40.000-60.000 patients

 

 

 

 

 

 

 

 

 

Prevalence : Prevalence unknown, estimations can be made: for Europe between 40.000-60.000 patients

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