General Articles Oral Pathology

Epidermolysis Bullosa (EB)


Epidermolysis Bullosa (EB)

Etiology:

• A diverse group of predominantly cutaneous, but also mucosal, mechanobullous diseases
Inherited form: autosomal dominant or recessive patterns may occur
Acquired form (acquisita): autoimmune from autoantibodies (immunoglobulin G [IgG]) to type VII collagen deposited within the basement membrane zone and upper dermis or lamina propria

Clinical Presentation:

• Variable, depending upon the specific form of many subtypes recognized
• Mucosal lesions range in severity from mild to debilitating, depending on subtype:
• Inherited forms have wide range of oral mucosal involvement, with most severe form (autosomal recessive, dermolytic) also demonstrating enamel hypoplasia and caries
• Acquisita form with mucous membrane pemphigoid variant shows oral and conjunctival erosions/blisters
• Mucosal involvement absent in several variants
• Scarring and stricture formation common in severe recessive forms
• Mucosa is often friable, but it may be severely blistered, eroded, or ulcerated.
• Loss of oral anatomic landmarks may follow severe scarring (eg, tongue mucosa may become smooth and atrophic with episodes of blistering and scarring).
• Obliteration of vestibules, reduction of oral opening, ankyloglossia
• Scarring can be associated with atrophy and leukoplakia, with increased risk for squamous cell carcinoma development.

Microscopic Findings:

• Bullae vary in location depending upon the form that is present:
• Intraepithelial in nonscarring forms
• At epithelial–connective tissue junction in dystrophic forms
• Subepithelial/intradermal in scarring forms
• Ultrastructural findings are as follows:
• Intraepithelial forms associated with defective cytokeratin groups
• Junctional forms associated with defective anchoring filaments at hemidesmosomal sites (epithelial–connective tissue junction)
• Dermal types demonstrate anchoring fibril or collagen destruction.

Diagnosis:

• Distribution of lesions
• Family history
• Microscopic evaluation
• Ultrastructural evaluation
• Immunohistochemical evaluation of basement membrane zone using specific labeled antibodies as markers for site of blister formation

Differential Diagnosis:

• Varies with specific form
• Generally includes the following:
• Bullous pemphigoid
• Mucous membrane (cicatricial) pemphigoid
• Erosive lichen planus
• Dermatitis herpetiformis
• Porphyria cutanea tarda
Erythema multiforme
• Bullous impetigo
• Kindler syndrome
• Ritter’s disease

Treatment:

• Acquisita form:

• Some recent success with colchicine and dapsone
• Immunosuppressive agents including azathioprine, methotrexate, and cyclosporine may be effective

• Acquisita and inherited forms:

• Avoidance of trauma
• Dental prevention strategies including extra-soft brushes, daily topical fluoride applications, dietary counseling

Prognosis:

• Widely variable depending on subtype

Epidermolysis Bullosa (EB)

Epidermolysis Bullosa (EB)

Epidermolysis Bullosa (EB)


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