EPIDERMOLYSIS BULLOSA SIMPLEX

Diagnosis: EPIDERMOLYSIS BULLOSA SIMPLEX

Case submitted by Dr.Azeem Alam Khan to the dermRounds community.

Clinical Presentation

Clinical photograph(s) submitted for peer review and discussion.

Clinical History

Submitted by Dr.Azeem Alam Khan. Originally posted June 10, 2009.

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, simplex, dr.azeem alam khan