Epidermolysis Bullosa (recessive dystrophic type)

Diagnosis: Epidermolysis Bullosa (recessive dystrophic type)

Huge bulla with erosions and scarring that leads to fusion of the digits.

Clinical Presentation

Huge bulla with erosions and scarring that leads to fusion of the digits.

Clinical History

Submitted by Alaa Saad. Originally posted September 19, 2010.

Treatment

See case discussion.

Differential Diagnosis

• Bullous pemphigoid • Epidermolysis bullosa acquisita • Kindler syndrome • Pemphigus • Linear IgA bullous dermatosis • Staphylococcal scalded skin syndrome

Key Learnings

• Group of inherited mechanobullous disorders — blistering from minor trauma • Classification based on level of cleavage: simplex (intraepidermal), junctional (lamina lucida), dystrophic (sub-lamina densa) • EB simplex: keratin 5/14 mutations — mildest form, non-scarring • Junctional EB: laminin-332, type XVII collagen, integrin mutations — can be lethal (Herlitz type) • Dystrophic EB: type VII collagen (COL7A1) mutations — scarring, mitten deformities, esophageal strictures • Recessive dystrophic EB: highest risk of aggressive SCC in chronic wounds • Gene therapy and protein replacement are emerging treatments

Tags: epidermolysis, bullosa, recessive, dystrophic, type, alaa saad