6.1.3 Epidermolysis Bullosa
Grading & Level of Importance: C
0.2 in 100000 live births worldwide; estimated 500000 cases worldwide. (Orphan disease). Epidermolysis bullosa simplex the most common sub-type of epidermolysis diseases (>90%).
Group of genetic diseases with skin fragility in which minimal trauma leads to the formation of blisters; autosomal dominant and autosomal recessive inheritance.
Aetiology & Pathogenesis
Mutations in structural proteins and adhesive complexes of the epidermis and the epidermal-dermal junction.
Signs & Symptoms
Blisters heal with or without scars, depending on the level of the defect (mutilations). With widespread disease, disturbances in electrolyte, water and protein balance. With oral and gastrointestinal tract involvement with life threatening scarring, difficulty eating and failure to thrive.
Every part of the body can be involved, predilection to areas exposed to pressure and friction.
Several subtypes depending on location of defective protein and level of blister formation in the skin. Clinically mild and severe forms of epidermolysis bullosa simplex, junctional epidermolysis bullosa and/or dystrophic epidermolysis bullosa.
Laboratory & other workups
Dermatopathology, immunofluorescent antigen mapping, electron microscopy, DNA sequencing of candidate genes.
Epidermolysis bullosa simplex: intraepidermal cleavage (keratin 5 and 14 defects).
Junctional epidermolysis bullosa: cleavage at the dermo-epidermal junction (lamina lucida). Dystrophic epidermolysis bullosa: subepidermal cleavage (collagen VII).
Depending on variant ranging from mild nuisance to fatal disease. Life long disabling disease, continuous wound care, marked psychosocial problems and reduced quality of life. Epidermolysis bullosa simplex improves with age.
Variable – none in mild forms; infections, scarring with mutilations and with development of squamous cell carcinomas in more severe variants. Early death possible.
Clinical findings and laboratory investigations, family history.
Other blistering disorders (pemphigoid, pemphigus, linear IgA bullous dermatosis, epidermolysis bullosa acquisita), peeling skin syndrome, congenital localized absence of skin, suction blisters and mechanical blisters by friction and trauma.
Prevention & Therapy
Intensive skin care, avoidance of pressure and friction. Prevention of secondary infections. No specific systemic therapy available.
Address severe cases to special centers. Autologous skin transplantation and gene therapy. Patient support groups very helpful.
Further Images / DOIA
- K. Kridin, D. Kneiber, E.H. Kowalski, et al.: Epidermolysis bullosa acquisita: A comprehensive review (2019)
- M. Laimer, C. Prodinger, J.W. Bauer: Hereditary epidermolysis bullosa (2015)
- J.D. Fine, L. Bruckner-Tuderman, R.A.J. Eady, et al.: Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification (2014)
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